Genetic diagnosis is becoming standard practice in the field of cardiology. It is recommended in the AHA, HRS-EHRA, ESC and CCS protocols. Diagsure has been shown to be cost-effective compared to conventional clinical screening.

Genetic diagnosis is the most effective way to group hereditary cardiovascular diseases, optimal timing of surgical intervention for aortic disease, differential diagnosis in sarcomere, and familial risk stratification for sudden cardiac death.

CARDIOLOGY	NO. OF GENES	GENES
TM-01 Arrhythmia	45	ABCC9, AKAP9, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CASQ2, CAV3,  DBH, DES, DSC2, DSG2, DSP, FLNC, GATA6, HADHA, HCN4, JUP, KCNA5,  KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYH6, MYH7,  NKX2-5, PKP2, RYR2, SALL4, SCN1B, SCN3B, SCN5A, TBX5, TGFB3, TMEM43,  TNNI3, TNNT2, TRDN, TRPM4, TTN
TM-02 Cardiomyopathy	122	AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL,  ALMS1, ANO5, APOA1, BAG3, BRAF, CALR3, CAPN3, CASQ2, CBL, COX15,  CPT2, CRYAB, CSRP3, DBH, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP,  DTNA, DYSF, EMD, ETFA, ETFB, ETFDH, FHL1, FKRP, FKTN, FLNC, FOXRED1,  FXN, GAA, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GUSB, HADHA, HCN4,  HFE, HRAS, ISPD, JPH2, JUP, KRAS, LAMA2, LAMP2, LDB3, LMNA, MAP2K1,  MAP2K2, MLYCD, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN,  NEXN, NF1, NRAS, PCCA, PCCB, PKP2, PLEC, PNPLA2, PTPN11, RAF1, RBM20,  RMND1, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SGCA, SGCB, SGCD,  SGCG, SHOC2, SLC22A5, SLC25A4, SLC25A20, SOS1, SPRED1, TAB2, TAZ,  TBX5, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2,  TPM1, TRIM32, TSFM, TTN, TTR, VCL, VCP, VPS13A, XK
TM-03 Aorta Disease	36	ABCC6, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1,  CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN,  ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, MYH11, NOTCH1, PLOD1,  SKI,SLC2A10, SLC39A13, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2,  ZNF469
TM-04 Congenital Structural  heart disease	49	ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ADAMTS10, ADAMTS17,  B3GAT3, BCOR, BMPR2, CBL, CHD7, CRELD1, CTC1, DHCR7, EFTUD2, ELN,  ENG, FLNA, GATA4, GATA6, GDF1, GJA1, GJA5, GPC3, HOXA1, HRAS, JAG1,  MYCN, NF1, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NSD1, PITX2,  RBM10, SALL4, TAB2, TBX1, TBX5, TBX20, TFAP2B, TLL1, ZFPM2, ZIC3
TM-05 Pulmonary Artery hypertension	9	ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, NFU1, SMAD4, TBX4
TM-06 Marfan Syndrome	28	ABL1, ADAMTS10, ADAMTS17, ADAMTSL4, CBS, COL1A1, COL1A2, COL2A1,  COL3A1, COL5A1, COL5A2, COL11A1, COL11A2, EFEMP2, FBN1, FBN2,  MED12, PLOD1, SKI, SLC2A10, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2,  UPF3B, VCAN
TM-07 Noonan Syndrome	16	CTB, ACTG1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, NSUN2,  PTPN11, RAF1, SHOC2, SOS1, SPRED1
TM-08 Ehlers-Danlos Syndrome	30	ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, CBS, CHST14,  COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, EFEMP2,  ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13, SMAD3,  TGFB2, TGFBR1, TGFBR2, ZNF469
TM-09 Hereditary hemorrhagic  telangiectasia	3	ACVRL1, ENG, SMAD4
TM-10 Hyperlipidemia	15	ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOE, LDLR,  LDLRAP1, LIPA, LMF1, LPL, PCSK9

Genetic diagnosis is the most effective way to group hereditary dermatological diseases, the backbone of personalized treatment and clinical decision-making. Detection of pathogenic mutations informs family counseling, creates opportunities for preventive treatment and recommendations for lifestyle, and routine follow-up by a physician.

DERMATOLOGY	NO. OF GENES	GENES
DL-01 Adams-Oliver Syndrome	5	ARHGAP31, DOCK6, NOTCH1, RBPJ, UBR1
DL-02 Albinism	19	AP3B1, BLOC1S6, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST,  MC1R, MITF, MLPH, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
DL-03 Cutis Laxa	10	ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1,  SLC2A10
DL-04 Dyskeratosis Congenita	8	AK2, CTC1, DKC1, NOP10, TERT, TINF2, USB1, WRAP53
DL-05 Ectodermal Dysplasia	20	BCS1L, CDH3, DSP, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6,  HOXC13, HR, IFT122, JUP, MPLKIP, PORCN, TP63, WDR35, WNT10A
DL-06 Ehlers-Danlos Syndrome	30	ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, CBS, CHST14,  COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, EFEMP2,  ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, PLOD1, PYCR1, SLC39A13, SMAD3,  TGFB2, TGFBR1, TGFBR2, ZNF469
DL-07 Epidermolysis Bullosa	22	ATP2C1, COL7A1, COL17A1, DSG1, DSG2, DSG4, DSP, DST, FERMT1, GRIP1,  ITGA3, ITGA6, ITGB4, KRT1, KRT5, KRT14*, LAMA3, LAMB3, LAMC2, PKP1,  PLEC, TGM5
DL-08 Hereditary Acrodermatitis  Enteropathica	1	SLC39A4
DL-09 Hermansky-Pudlak Syndrome	20	BCA3, AP3B1, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5,  HPS6, LYST, OCA2, SFTPB, SFTPC, SLC45A2, TERT, TINF2, TYR, TYRP1
DL-10 Ichthyosis	27	ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, CYP4F22, EBP, ERCC2, FLG,  GJB2, GJB3, GJB4, KRT1, KRT2, KRT10, LOR, MBTPS2, MPLKIP, NIPAL4, PEX7,  PHYH, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1
DL-11 Neurofibromatosis	8	KIT, KITLG, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1
DL-12 Pachyonychia Congenita	5	AAGAB, KRT6A, KRT16, KRT17, TRPV3
DL-13 Palmoplantar Keratoderma	22	AAGAB, CTSC, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, KRT1, KRT6A, KRT14,  KRT16, KRT17, LOR, MBTPS2, PKP1, SLURP1, TRPV3, WNT10A, GJA1, DSC2
DL-14 Progeria and Progeroid  Syndrome	17	AGPAT2, ALDH18A1, B4GALT7, BLM, BSCL2, COL3A1, ERCC2, ERCC4, ERCC5,  ERCC6, ERCC8, GORAB, LMNA, PYCR1, RECQL4, WRN, ZMPSTE24
DL-15 Waardenburg Syndrome	7	EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10

Genetic diagnosis is becoming a standard practice in hearing loss and deafness, as recommended by the ACMG protocol. Many genes are associated with hereditary hearing loss and deafness, and pathogenic variants of these genes may be responsible for these conditions. Thus, genetic diagnosis is key to understanding genetic pathways and disease prognosis, informing personalized treatment and clinical decisions, as well as planning for family members.

EAR, NOSE & THROAT	NO. OF GENES	GENES
TMH-01 Alport Syndrome	6	CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
TMH-02 Branchio-Oto-Renal (BOR) Syndrome	4	EYA1, SIX1, SIX5, TFAP2A
TMH-03 Comprehensive Hearing Loss and Deafness	146	ABHD12, ACTG1, AIFM1, ALMS1, ANKH, ATP6V1B1, BCS1L, BSND,  BTD, CABP2, CACNA1D, CCDC50, CD151, CDH23, CDKN1C,  CEACAM16, CHD7, CHSY1, CIB2, CLDN14, CLRN1, COCH,  COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2,  COL9A3, COL11A1, COL11A2, DCAF17, DFNA5, DFNB31,  DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3,  EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXI1, GATA3,  GIPC3,GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS, HARS2,  HGF, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1,  KCNQ4, KIT, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA,  MARVELD2, MET, MGP, MITF, MSRB3, MYH9, MYH14, MYO3A,  MYO6, MYO7A,MYO15A, NDP,NLRP3, OTOF, OTOG, OTOGL,PAX3,  PCDH15, PDZD7, PEX1, PEX6, PEX26, POLR1C, POLR1D, POU3F4,  POU4F3, PRPS1, RDX, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E,  SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5,  SLC29A3, SLC33A1, SLC52A2, SLC52A3, SMAD4, SMPX, SNAI2,  SOX10, SUCLA2, SUCLG1, TBC1D24, TCOF1, TECTA, TFAP2A,  TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TRMU,  TSPEAR, TYR, USH1C, USH1G, USH2A, VCAN, WFS1
TMH-04 Hereditary Hemorrhagic Telangiectasia (HHT)	4	ACVRL1, ENG, RASA1, SMAD4
TMH-05 Pendred Syndrome	3	FOXI1, KCNJ10, SLC26A4
TMH-06 Stickler Syndrome	8	COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LRP2,  VCAN
TMH-07 Usher Syndrome	11	CIB2, CLRN1, DFNB31, HARS, MYO7A, PCDH15, PDZD7, PEX1,  USH1C, USH1G, USH2A
TMH-08 Waardenburg Syndrome	7	EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10

The applicability of genetic testing in endocrinology is very high, bringing great economic benefits to the healthcare system. For example, it has been typically applied in thyroid endocrine disorders and glucocorticoids. Genetic testing supports accurate molecular diagnoses, treatment optimization, and recognizing other manifestations of the suspected syndrome. Identifying the disease-causing gene and its heredity mechanism allows at-risk members to perform necessary tests and make reproductive plans.

ENDOCRINOLOGY	NO. OF GENES	GENES
NT-01 Monogenic Diabetes	18	HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1,  NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC2A2, SLC16A1,  WFS1
NT-02 Abnormal Genitalia/Disorders of Sex  Development	45	AMH, AMHR2, AR, ARX, ATRX, BCOR, CDKN1C, CEP41, CHD7, CREBBP,  CYP11A1, CYP11B1, CYP19A1, CYP21A2, DHCR7, DHH, DYNC2H1,  ERCC3, FGF8, FGFR1, FIG4, FRAS1, GATA4, GNRHR, HSD3B2,  HSD17B3, IRF6, KISS1R, LHCGR, MAMLD1, MAP3K1, MKS1, NR5A1,  NR0B1, POR, PROK2, PROKR2, RSPO1, SOX9, SRD5A2, SRY, STAR,  TACR3, WT1, ZFPM2
NT-03 Congenital Adrenal Hyperplasia	7	CYP11A1, CYP11B1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR
NT-04 Glucocorticoid Deficiency	6	MC2R, MRAP, NNT, NR3C1, POMC, STAR
NT-05 Hyperparathyroidism	8	AIRE, CASR, CDC73, CDKN1B, GCM2, MEN1, PTH, RET
NT-06 Hypoglycemia, Hyperinsulinism and  Ketone Metabolism	50	ABCC8, ACAT1, ACSF3, AGL, ALDOA, ALDOB, EPM2A, FBP1, G6PC,  GAA, GBE1, GCK, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2,  HNF1A, HNF4A, INSR, KCNJ11, LAMP2, LDHA, MPV17, NHLRC1,  OXCT1, PC, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2,  PHKB, PHKG2, PTF1A, PYGL, PYGM, SLC2A2, SLC16A1, SLC37A4,  GLUD1, NEUROD1, PAX2, PAX4, PAX6, INS, PCSK1
NT-07 Hypothyroidism and Resistance  to Thyroid Hormone	21	DUOX2, DUOXA2, FOXE1, GNAS, HESX1, IGSF1, NKX2-1, NKX2-5,  PAX8, POU1F1, PROP1, SECISBP2, SLC5A5, SLC16A2, SLC26A4, TG,  THRA, THRB, TPO, TSHB, TSHR
NT-08 Kallmann Syndrome	8	CHD7, FGF8, FGFR1, GNRHR, KISS1R, PROK2, PROKR2, TACR3
NT-09 MODY: Maturity Onset Diabetes  of the Young	12	ABCC8, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11,  PAX4, PDX1, RFX6
NT-10 Monogenic Obesity	31	ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12,  CEP290, CUL4B, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1,  NR0B2, NTRK2, PCSK1, PHF6, POMC, PPARG, SDCCAG8, SIM1,  TRIM32, TTC8, VPS13B, WDPCP
NT-11 Premature Ovarian Failure	14	BMP15, CYP19A1, FOXL2, FSHR, GALT, GNAS, LHCGR, LMNA, NOBOX,  NR5A1, POLG, POR, STAR, WT1

Genetic diagnosis is the most effective way to group digestive diseases such as idiopathic or hereditary pancreatitis. In addition to supporting personalized treatment and management strategies, gene sequencing is also useful for predicting patients’ additional risks, counseling families at risk, creating opportunities for preventive treatment, and recommending lifestyle, routine follow-ups by a physician.

GASTROENTEROLOGY	NO. OF GENES	GENES
TH-01 Cholestasis	43	ABCB4, ABCB11, ABCC2, AKR1D1, ATP8B1, BAAT, CFTR, CYP7B1,  DGUOK, EPCAM, FAH, HSD3B7, JAG1, LCT, LMF1, MKS1, MYO5B,  NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, PEX1,  PEX2, PEX5, PEX6, PEX10, PEX12, PEX26, SERPINA1, SLC25A13,  SLC26A3, SMPD1, SPINT2, TJP2, TMEM216, TRMU, TTC37, UGT1A1,  VIPAS39, VPS33B
TH-02 Congenital Diarrhoea	21	ADAM17, CYP27A1, EPCAM, FOXP3, GUCY2C, IL10RA, IL10RB, LCT,  LIPA, MVK, MYO5B, NCF2, NEUROG3, SAR1B, SI, SLC5A1, SLC10A2,  SLC26A3, SPINT2, TTC37, XIAP
TH-03 Congenital Hepatic Fibrosis	49	AHI1, ARL6, ARL13B, B9D1, B9D2, BAAT, BBS1, BBS2, BBS4, BBS5,  BBS7, BBS9, BBS10, BBS12, C5ORF42, CC2D2A, CEP41, CEP164,  CEP290, GLIS2, INPP5E, INVS, IQCB1, KIF7, LIPA, MKKS, MKS1,  NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKD2, PKHD1, RPGRIP1L,  TCTN1, TCTN2, TCTN3, TMEM67, TMEM138, TMEM216, TMEM231,  TMEM237, TRIM32, TTC8, TTC21B, WDR19, WDR35, ZNF423
TH-04 Gastrointestinal Atresia	12	CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MYCN,  PTF1A, RFX6, SOX2
TH-05 Hirschsprung Disease	11	BDNF, EDN3, EDNRB, L1CAM, MITF, NRTN, PAX3, PHOX2B, RET,  SOX10, ZEB2
TH-06 Pancreatitis	5	APOA5, CFTR, PRSS1, SPINK1, UBR1
TH-07 Polycystic Liver Disease	5	LRP5, PKD1, PKD2, PRKCSH, SEC63

An accurate genetic test is required for the diagnosis of hematopoietic cancer and to establish the optimal treatment for the patient. Identifying abnormal genes and genetic pathways warns families about health risks and the need to get tested and plan accordingly.

HEMATOLOGY	NO. OF GENES	GENES
HH-01 Anemia	65	ABCB7, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM,  BRCA2, BRIP1, CDAN1, CLCN7, CUBN, CYB5R3, EPB42, ERCC4,  FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI,  FANCL, FANCM, G6PD, GATA1, GPI, GSS, HBB, HFE, KLF1, LPIN2,  MTR, NBN, NT5C3A, PALB2, PC, PDHA1, PDHX, PKLR, PUS1,  RAD51C, REN, RHAG, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26,  SEC23B, SLC4A1, SLC19A2, SLC25A38, SLX4, SPTA1, SPTB, TCN2,  TF, THBD, TMPRSS6, YARS2
HH-02 Bleeding Disorder/Coagulopathy	49	ABCG8, ADAMTS13, ANKRD26, AP3B1, BLOC1S6, DTNBP1, ETV6,  F2, F5, F7, F8, F9, F10, F11, F12, F13A1, FGA, FGB, FLNA, GATA1,  GGCX, GP1BA, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6,  ITGA2, ITGA2B, ITGB3, LMAN1, MASTL, MCFD2, MPL, MYH9,  NBEAL2, P2RY12, PROC, PROS1, RUNX1, SERPINC1, THBD, THPO,  TUBB1, VKORC1, VWF, WAS
HH-03 Bloom Syndrome	1	BLM
HH-04 Bone Marrow Failure Syndrome	101	ACTB, AK2, ANKRD26, AP3B1, ATM, ATR, BLM, BLOC1S6, BRAF,  BRCA1, BRCA2, BRIP1, CBL, CDKN2A, CEBPA, CSF2RA, CSF3R,  CTC1, CTSC, CXCR4, DKC1, DTNBP1, ELANE, EPCAM, ERCC4, ETV6,  FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG,  FANCI, FANCL, FANCM, FAS, FASLG, G6PC3, GATA1, GATA2, GFI1,  HAX1, HPS1, HPS3,HPS4 ,HPS5, HPS6, HRAS, IFNGR2, ITK, KRAS,  LAMTOR2, LYST, MAGT1, MAP2K1, MAP2K2, MLH1, MPL, MSH2,  MSH6, MYO5A, NBN, NF1, NOP10, NRAS, PALB2, PMS2, PRF1,  PTPN11, RAB27A, RAC2, RAD51C, RECQL4, RPL5, RPL11, RPL35A,  RPS19, RPS24, RPS26, RUNX1, SAMD9, SH2D1A, SLC37A4, SLX4,  SOS1, SRP72, STX11, STXBP2, TERT, THPO, TINF2, TP53, UNC13D,  USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP
HH-05 Coagulation Factor Deficiency	15	F2, F5, F7, F8, F9, F10, F11, F12, F13A1, FGA, FGB, GGCX, LMAN1,  VKORC1, VWF
HH-06 Congenital Neutropenia	17	ACTB, CSF2RA, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1,  IFNGR2, LAMTOR2, LYST, RAC2, SLC37A4, SRP72, VPS13B, WAS
HH-07 Diamond-Blackfan anemia	7	GATA1, RPL5, RPL11, RPL35A, RPS19, RPS24, RPS26
HH-08 Dyskeratosis Congenita	8	AK2, CTC1, DKC1, NOP10, TERT, TINF2, USB1, WRAP53
HH-09 Fanconi anemia	21	ATM, ATR, BLM, BRCA2, BRIP1, CXCR4, ERCC4, FANCA, FANCB,  FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM,  NBN, PALB2, RAD51C, SLX4
HH-10 Hereditary Leukemia	32	ANKRD26, ATM, BLM, BRAF, BRCA1, BRCA2, CBL, CDKN2A, CEBPA,  DKC1 EPCAM, ETV6, FANCA, GATA2, HRAS, KRAS, MAP2K1, MAP2K2,  MLH1, MSH2, MSH6, NBN, NF1, NRAS, PMS2, PTPN11, RUNX1,  SOS1, SRP72, TERT, TINF2, TP5
HH-11 Hermansky-Pudlak Syndrome	20	ABCA3, AP3B1, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1, HPS3,  HPS4, HPS5, HPS6, LYST, OCA2, SFTPB, SFTPC, SLC45A2, TERT,  TINF2, TYR, TYRP1
HH-12 Platelet Function Disorder	17	AP3B1, BLOC1S6, DTNBP1, GP1BA, GP9, HPS1, HPS3, HPS4, HPS5,  HPS6, ITGA2B, ITGB3, NBEAL2, P2RY12, RUNX1, THPO, WIPF1
HH-13 Red Blood Cell Membrane Disorder	7	ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB
HH-14 Thrombocytopenia	22	ABCG5, ABCG8, ADAMTS13, ANKRD26, ETV6, FLNA, GATA1, GP1BA,  GP9, HOXA11, ITGA2, ITGA2B, ITGB3, MASTL, MPL, MYH9, NBEAL2,  RUNX1, THBD, TUBB1, WAS, WIPF1

Accurate genetic diagnosis of immunodeficiency with a detailed disease subtype is important in rare disease classification and improvement of treatment as well as follow-up strategies for patients and their family. It also assists in counseling at-risk families, facilitating preventive treatment and lifestyle recommendations, as well as routine follow-ups by a physician.

IMMUNOLOGY	NO. OF GENES	GENES
MD-01 Autoinflammatory Syndrome	24	ACP5, ADAR, CARD14, ELANE, IL1RN, IL36RN, LPIN2, MEFV, MVK,  NLRP1, NLRP3, NLRP12, NOD2, PLCG2, PSENEN, PSMB8,  PSTPIP1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC29A3,  TNFRSF1A, TREX1
MD-02 Bone Marrow Failure Syndrome	2	WRAP53, XIAP
MD-03 Chronic Granulomatous Disease	6	CYBA, CYBB, G6PD, NCF2, NCF4, NOD2
MD-04 Complement System Disorder	43	ADIPOQ, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9,  CCDC39, CCDC40, CCDC103, CD59, CFD, CFH, CFI, CFP, COLEC11,  CR2, DGKE, DNAAF1, DNAAF2, DNAAF3, DNAH5, DNAH11, DNAI1,  DNAI2, DNAL1, FCN3, LRRC6, MASP1, MASP2, NME8, OFD1, PIGA,  RSPH4A, RSPH9, SERPING1, THBD
MD-05 Congenital Neutropenia	17	ACTB, CSF2RA, CSF3R, CTSC, ELANE, G6PC3, GATA2, GFI1, HAX1,  IFNGR2, LAMTOR2, LYST, RAC2, SLC37A4, SRP72, VPS13B, WAS
MD-06 Primary Immunodeficiency	190	ACP5, ACTB, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ATM, BCL10,  BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2, C3, CARD9, CARD14, CASP8,  CASP10, CD3D, CD3E, CD3G, CD8A, CD19, CD40, CD40LG, CD55, CD59,  CD79A, CD79B, CD81, CD247, CEBPE, CFD, CFH, CFI, CFP, CFTR, CHD7,  CIITA, CLCN7, COLEC11, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1,  CTLA4, CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DGKE, DKC1, DNMT3B,  DOCK8, ELANE, FADD, FAS, FASLG, FERMT3, FOXN1, FOXP3, G6PC3, G6PD,  GATA2, GFI1, HAX1, ICOS, IFNAR2, IFNGR1, IFNGR2, IGLL1, IL1RN, IL2RA,  IL2RG, IL7R, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL21R, IL36RN, IRAK4,  IRF8, ITGB2, ITK, JAK3, KRAS, LAMTOR2, LIG4, LPIN2, LRBA, LYST, MAGT1,  MASP1, MEFV, MOGS, MRE11A, MVK, MYD88, MYO5A, NBN, NCF2, NCF4,  NCSTN, , NFKBIA, NHEJ1, NLRP1, NLRP3, NLRP12, NOD2, NOP10, NRAS,  OFD1, ORAI1, PEPD, PIGA, PLCG2, PMS2, PNP, PRF1, PRKDC, PSENEN  ,PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RECQL4, RFX5,  RFXANK, RFXAP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, SAMD9,  SAMHD1, SERPING1, SH2D1A, SLC7A7, SLC29A3, SLC35C1, SLC37A4,  SLC46A1, SMARCAL1, SP110, SPINK5, SRP72, STAT1, STAT3, STAT5B, STIM1  ,STK4, STX11, STXBP2, TAP2, TBX1, TCN2, TERT, THBD, TINF2, TMC6, TMC8,  TNFRSF1A, TNFRSF13B, TREX1, TYK2, UNC13D, UNC93B1, UNC119, UNG,  USB1, VPS13B, WAS, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24

Genetic diagnosis is the most effective way to group metabolic diseases, providing the necessary information for personalized treatment and monitoring strategies. With coenzyme Q10 deficiency, accurate diagnosis offers the opportunity for patients to respond to CoQlO treatment. Furthermore, it also assists in counseling at-risk families, facilitating preventive treatment and lifestyle recommendations, as well as routine follow-ups by a physician.

METABOLIC DISORDERS	NO. OF GENES	GENES
CH-01 Aicardi-Goutières Syndrome	6	ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
CH-02 Congenital and Familial Lipodystrophy	9	AGPAT2, AKT2, BSCL2, CAV1, LMNA, PLIN1, PPARG, PTRF,  ZMPSTE24
CH-03 Congenital Disorders of Glycosylation	39	ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, ATP6V0A2,  B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS,  DOLK, DPAGT1, DPM1, DPM2, DPM3, GNE, MAGT1, MAN1B1,  MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SEC23B, SLC35A1,  SLC35C1, SRD5A3*, TMEM165, TUSC3
CH-04 Congenital Mono – and Disaccharide Disorders	9	ALDOB, GALE, GALK1, GALT, LCT, SI, SLC2A1, SLC2A2, SLC5A1
CH-05 Creatine Metabolism Deficiency	3	GAMT, GATM, SLC6A8
CH-06 Cystinuria	2	SLC3A1, SLC7A9
CH-07 Fatty Acid Oxidation Syndrome	24	ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL,  ALDH5A1, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA,  HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5,  SLC25A20, TAZ
CH-08 Glycogen storage Disorder	25	AGL, ALDOA, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2,  LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1,  PHKA2, PHKB, PHKG2, PYGL, PYGM, SLC2A2, SLC37A4
CH-09 Hereditary Hemochromatosis	5	HAMP, HFE, HFE2, SLC40A1, TFR2
CH-10 Homocystinuria	4	CBS, MTHFR, MTR, MTRR
CH-11 Hyperammonemia and Urea Cycle Disorder	47	ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB,  CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUL, HADHA,  HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2,  MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, NBAS, OAT,  OTC, PC, PCCA, PCCB, SLC7A7, SLC22A5, SLC25A13, SLC25A15,  SLC25A20, SUCLA2, SUCLG1, TMEM70, UMPS
CH-12 Hyperphenylalaninemia	5	GCH1, PAH, PCBD1, PTS, QDPR
CH-13 Lysosomal Disorders and Mucopolysaccharidosis	99	ABCC8, ACY1, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2,  ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6,  CLN8, COL2A1, COL11A2, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7,  DPYD, DYM, ETFA, ETFB, ETFDH, FOLR1, FUCA1, GAA, GALC, GALNS,  GAMT, GBA, GCDH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG,  GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS, IDUA,  L2HGDH, LAMA2, LAMP2, LDB3, LIPA, MAN1B1, MAN2B1, MANBA,  MCOLN1, MFSD8, MOCS1, MOCS2, MYOT, NAGA, NAGLU, NPC1,  NPC2, PEX1, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX16,  PEX26, PGK1, PHYH, PPT1, PRODH, PSAP, QDPR, RAI1, SGSH,  SLC17A5, SLC25A15, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1
CH-14 Metabolic Liver Failure	16	ALDOB, ATP7B, FAH, GALE, GALK1, GALT, LIPA, MPI, NPC1, NPC2,  PHKA2, PHKB, PHKG2, PYGL, SERPINA1, SMPD1
CH-15 Metabolic Myopathy and Rhabdomyolysis	47	ACAD9, ACADL, ACADM, ACADVL, ADCK3, AGL, AHCY, ALDOA, AMPD1,  ANO5, CAV3, COQ2, CPT2, DYSF, ETFA, ETFB, ETFDH, FKRP, FKTN, GAA,  GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, MYH3, OPA1,  OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, POLG, POLG2, PYGM,  RRM2B, RYR1, SCN4A, SLC22A5, SLC25A20, SUCLA2, TK2, TYMP
CH-16 Mitochondrial DNA Depletion Syndrome	22	AGK, APTX, AUH, DGUOK, MFN2, MPV17, NDUFS1, OPA1, OPA3,  POLG, POLG2, RRM2B, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1,  TIMM8A, TK2, TMEM126A, TYMP, WFS1
CH-17 Peroxisomal Disorders	26	ABCD1, ABCD3, ACOX1, AGPS, AGXT, AMACR, DYM, EBP, GNPAT,  HSD17B4, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B,  PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, TRIM37
CH-18 Porphyria	9	ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS

The genetic mechanisms of kidney disease include single-gene disorders, chromosomal abnormalities and many polygenic disorders. Accurate genetic diagnosis helps to optimize treatment and identify other manifestations of the syndrome that need screening, as well as counsel patients’ families about health risks. Furthermore, patients with nephrotic syndrome (NS) can avoid steroids and other immunosuppressive drugs thanks to genetic testing. Genetic testing for pathogenic variants is used in prognoses such as post-transplant recurrence.

NEPHROLOGY	NO. OF GENES	GENES
THAN-01 Bardet-Biedl Syndrome	21	ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12,  C8ORF37, CEP290, LZTFL1, MKKS, MKS1, PNPLA6, SDCCAG8, TMEM67,  TRIM32, TTC8, WDPCP
THAN-02 Bartter Syndrome	7	BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3
THAN-03 Ciliopathy	71	ACVR2B, AHI1, ALMS1, ARL6, ARL13B, B9D1, B9D2, BBS1, BBS2, BBS4,  BBS5, BBS7, BBS9, BBS10, BBS12, C5ORF42, C8ORF37, CC2D2A, CEP41,  CEP164, CEP290, DHCR7, DYNC2H1, EVC, EVC2, FAM58A, GLI2, GLI3,  GLIS2, HYLS1, IFT43, IFT80, IFT122, IFT140, INPP5E, INVS, IQCB1, KIF7,  LZTFL1, MKKS, MKS1, NEK1, NEK8, NODAL, NPHP1, NPHP3, NPHP4,  OFD1, PKD1, PKD2, PKHD1, PMM2, PNPLA6, RPGRIP1L, SDCCAG8, TCTN1,  TCTN2, TCTN3,TMEM67, TMEM138, TMEM216, TMEM231, TMEM237,  TRIM32, TTC8, TTC21B, WDPCP, WDR19, WDR35, ZIC3, ZNF423
THAN-04 Cystic Kidney Disease	31	CEP164, CEP290, COL4A1, EYA1, GLIS2, HNF1B, INVS, IQCB1, JAG1,  LRP5, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1,  PKD2, PKHD1, RPGRIP1L, SDCCAG8, SIX5, TMEM67, TSC1, TSC2, TTC21B,  UMOD, VHL, WDR19, ZNF423
THAN-05 Diabetes Insipidus	3	AQP2, AVP, AVPR2
THAN-06 Hemolytic Uremic Syndrome	8	ADAMTS13, C3, CD46, CFH, CFHR5, CFI, DGKE, THBD
THAN-07 Joubert Syndrome	26	AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP41, CEP164, CEP290,  INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3,  TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TTC21B, ZNF423
THAN-08 Liddle Syndrome	2	SCNN1B, SCNN1G
THAN-09 Meckel Syndrome	11	B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2,  TMEM67, TMEM216, TMEM231
THAN-10 Nephrolithiasis	32	GXT, ALPL, APRT, ATP6V1B1, ATP6V0A4, CA2, CASR, CLCN5, CLDN16,  CLDN19, CYP24A1, FAM20A, GPHN, GRHPR, HNF4A, HOGA1, HPRT1,  KCNJ1, MOCS1*, OCRL, SLC2A9, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1,  SLC12A1, SLC22A12, SLC26A1, SLC34A1, SLC34A3, VDR, XDH
THAN-11 Nephronophthisis	16	ANKS6, CEP164, CEP290, GLIS2, INVS, IQCB1, NEK8, NPHP1, NPHP3,  NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423
THAN-12 Nephrotic Syndrome	38	ACTN4, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, DGKE, FAN1, FN1,  INF2, ITGA3, LAMB2, LMX1B, MAFB, MYH9, MYO1E, NPHS1, NPHS2,  PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1, PAX2, LMNA,  KANK1, PTPRO, APOL1, CUBN, ITGB4, CD151, COQ6, PDSS2, ZMPSTE24,  PMM2, ALG1
THAN-13 Polycystic Kidney Disease)	8	JAG1, LRP5, NOTCH2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
THAN-14 Primary Ciliary Dyskinesia	21	CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAH5,  DNAH11, DNAI1, DNAI2, DNAL1, DYX1C1, HYDIN, INVS, LRRC6, NME8,  OFD1, RPGR, RSPH4A, RSPH9
THAN-15 Primary Hyperoxaluria	3	AGXT, GRHPR, HOGA1
THAN-16 Pseudohypoaldosteronism	10	CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G,  WNK1, WNK4
THAN-17 Renal Malformation	20	ACE, AGT, BMP4, EYA1, FAM58A, FANCB, FOXC2, FREM1, FREM2, GATA3,  HNF1B, PAX2, PBX1, REN, RET, ROBO2, SALL1, SIX1, SIX5, WT1
THAN-18 Renal Tubular Acidosis	5	ATP6V1B1, ATP6V0A4, CA2, SLC4A1, SLC4A4

Genetic diagnosis is the most effective way to group neurological diseases, providing the information needed for personalized treatment and monitoring strategies. An accurate genetic diagnosis can terminate a long diagnostic process and assess the prognosis of the patient.

NEUROLOGY	NO. OF GENES	GENES
TK-01 Amyotrophic Lateral Sclerosis	26	ALS2, ANG, ATL1, BSCL2, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN,  HEXA, KIAA0196, KIF5A, OPTN, PRF1, REEP1, SLC52A3, SOD1, SPAST,  SPG11, SPG20, SQSTM1, TARDBP, UBQLN2, VAPB, VCP
TK-02 Ataxia	128	ABCB7, ABHD12, ACO2, ADCK3, AFG3L2, AHI1, ALDH5A1, ANO10,  APTX, ARL6, ARL13B, ATCAY, ATM, ATP1A3, BBS1, BBS2, BBS4, BBS5,  BBS7, BBS9, BBS10, BBS12, BEAN1, C5ORF42, CA8, CACNA1A, CACNB4,  CAMTA1, CASK, CC2D2A, CCDC88C, CEP41, CEP290, CLCN2, CLN5, CSTB,  CYP27A1, DNAJC19, DNMT1, ELOVL4, FA2H, FGF14, FLVCR1, FMR1, FXN,  GFAP, GOSR2, GRM1, GSS, HARS2, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1,  KCNC3, KCNJ10, KIF7, LAMA1, LMNB1, LRPPRC, MKKS, MKS1, MRE11A,  MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8,  NDUFV1, NOL3, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7,  PHYH, PNKD, PNKP, PNPLA6, POLG, PPP2R2B, PRKCG, PRRT2, RPGRIP1L,  SACS, SERAC1, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SLC20A2, SLC52A2,  SPG7, SPTBN2, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TGM6,  TMEM67, TMEM138, TMEM216, TMEM231, TMEM237, TPP1, TRIM32,  TTBK2, TTC8, TTC19, TTPA, VLDLR, WDPCP, WDR81, WFS1, WWOX,  ZFYVE26, ZNF423, CP
TK-03 Autism Spectrum Disorders	17	BCL11A, CACNA1C, CC2D1A, CTNND2, DHCR7, FOXP1, GAMT, MECP2, NLGN3,  NLGN4X, NSD1, PTCHD1, PTEN, RPL10, SHANK3, TSC1, TSC2
TK-04 Cerebral Cavernous Malformation	4	CCM2, KRIT1, PDCD10, RASA1
TK-05 Charcot-Marie-Tooth Neuropathy	80	AARS, AIFM1, AMACR, ARHGEF10, ATL1, ATP7A, BAG3, BSCL2, CCT5,  COX10, CTDP1, DCTN1, DHTKD1, DNM2, DNMT1, DST, DYNC1H1,  EGR2, FAM134B, FBLN5, FGD4, FIG4, FXN, GAN, GARS, GDAP1, GJB1,  GNE, HADHB, HARS, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, IKBKAP,  INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MED25,  MFN2, MPZ, MTMR2, MYOT, NDRG1, NEFL, NGF, NTRK1, PLEKHG5,  PMP22, POLG, PRPS1, PRX, RAB7A, REEP1, SACS, SBF2, SCN9A, SETX,  SH3TC2, SLC12A6, SMAD3, SPG11, SPTLC1, SPTLC2, SURF1, TFG,  TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26
TK-06 Coenzyme qio Deficiency	12	ADCK3, ANO10, APTX, COQ2, COQ5, COQ6, COQ9, ETFA, ETFB, ETFDH,  PDSS1, PDSS2
TK-07 Collagen Type Vl-Related Disorders	5	COL4A1, COL4A2, COL6A1, COL6A2, COL6A3
TK-08 Comprehensive Epilepsy	220	ABAT, ABCD1, ADAR, ADSL, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2,  ALDH5A1, ALDH7A1, ALG13, AMACR, AMT, AP4B1, AP4E1, AP4M1, AP4S1,  ARG1, ARHGEF9, ARSA, ARX, ASAH1, ASNS, ASPA, ATP1A3, ATP13A2, ATRX,  BRAT1, BTD, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CC2D1A, CDKL5,  CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6,  CLN8, CNTNAP2, COL4A1, COX6B1, COX15, CPT2, CSF1R, CSTB, CTC1, CTSD,  CUL4B, CYP27A1, D2HGDH, DARS2, DCX, DDC, DNAJC5, DNM1, DPYD,  DPYS, EARS2, ECM1, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A,  ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FLNA, FOLR1, FOXG1,  FOXRED1, GABRA1, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP,  GFM1, GJC2, GLB1, GLDC, GLRB, GNE, GOSR2, GPHN, GRIA3, GRIK2, GRIN1,  GRIN2A, GRIN2B, GRN, HACE1, HEPACAM, HIBCH, HSD17B10, HTRA1, HTT,  IQSEC2, KCNA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIF1A, L2HGDH,  LGI1, LMNB1, LRPPRC, MBD5, MECP2, MED12, MEF2C, MFSD8, MLC1,  MOCS1, MTFMT, MTHFR, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7,  NDUFS8, NDUFV1, NFU1, NHLRC1, NOTCH3, NRXN1, NUBPL, OFD1, OPHN1,  PCDH19, PGK1, PHF6, PIGA, PIGN, PIGO, PIGV, PLCB1, PLP1, PNKP, PNPO,  POLG, POLR3A, POLR3B, PPT1, PRICKLE1, PRODH, PRRT2, PSAP, PTS, QDPR,  RAB39B, RELN, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,  ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1,  SDHAF1, SERAC1, SERPINI1, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SLC19A3,  SLC25A15, SLC25A22, SLC46A1, SOX10, SPTAN1, ST3GAL3, ST3GAL5,  STXBP1, SUMF1, SUOX, SYN1, TAF1, TBC1D24, TBCE, TCF4, TPP1, TREX1,  TSC1, TSC2, TTC19, UBE2A, UBE3A, VPS13A, WWOX, ZEB2, ZFYVE26
TK-09 Comprehensive Muscular Dystrophy  /Myopathy	53	ACTA1, ANO5, ATP2A1, B3GALNT2, BAG3, CAPN3, CAV3, CFL2,  COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRYAB, DES, DMD,  DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, ISPD, ITGA7,  KBTBD13, LAMA2, LARGE, LDB3, LMNA, MEGF10, MTM1, MYH7,  MYOT, NEB, PNPLA2, POLG, POMT1, SGCA, SGCB, SGCD, SGCG, SYNE1,  TCAP, TMEM43, TNNT1, TPM2, TPM3, TRIM32, TTN, VMA21, VPS13A
TK-10 Congenital Myasthenic Syndromes	17	AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7,  DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, STIM1
TK-11 Dementia	17	APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2,  SIGMAR1, SNCA, TARDBP, TREM2, UBE3A, UBQLN2, VCP
TK-12 Dystonia	15	ADCY5, ATP1A3, DCAF17, FA2H, GCH1, PDGFB, PDGFRB, PNKD,  PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A
TK-13 Emery-Dreifuss Muscular Dystrophy	6	DMD, EMD, FHL1, LMNA, TMEM43, TTN
TK-14 Epileptic Encephalopathy	94	ABAT, ADAR, ADSL, ALDH7A1, ALG13, AMT, ARHGEF9, ARX, ASNS, BRAT1,  CACNA1A, CASK, CDKL5, CHD2, CLCN4, CNTNAP2, COX6B1, CPT2, D2HGDH,  DCX, DNM1L, ETHE1, FARS2, FLNA, FOXG1, GABRA1, GABRB3, GABRG2,  GAMT, GLDC, GPHN, GRIN1, GRIN2A, GRIN2B, HEPACAM, HIBCH, HTT,  KCNQ2, KCNQ3, KCNT1, KIF1A, LRPPRC, MBD5, MECP2, MEF2C, MOCS1,  MTFMT, MTHFR, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1,  NRXN1, NUBPL, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, RMND1,  RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A,  SCO1, SDHAF1, SERAC1, SLC2A1, SLC6A8, SLC9A6, SLC19A3, SLC25A22,  SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, TBC1D24, TBCE, TCF4, TREX1,  TSC1, TSC2, TTC19, UBE3A, WWOX, ZEB2
TK-15 Holoprosencephaly	12	CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3,  TGIF1, ZIC2
TK-16 Leukodystrophy and Leukoencephalopathy	62	ABCD1, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1,  ARSA, ASPA, CLCN2, COL4A1, COX6B1, COX15, CSF1R, CTC1, CYP27A1,  D2HGDH, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H,  FAM126A, FOLR1, FOXRED1, GALC, GFAP, GFM1, GJC2, HEPACAM, HIBCH,  HTRA1, L2HGDH, LMNB1, MLC1, MTFMT, NDUFAF5, NFU1, NOTCH3, NUBPL,  PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2,  SAMHD1, SCO1, SDHAF1, SERAC1, SOX10, SUMF1, TREX1, TTC19, ZFYVE26
TK-17 LGMD and Congenital Muscular  Dystrophy	31	ANO5, B3GALNT2, CAPN3, CAV3, COL4A1, COL4A2, CRYAB, DES, DMD, DNAJB6,  DYSF, FKRP, FKTN, ISPD, ITGA7, LAMA2, LMNA, MEGF10, MYH7, MYOT,  PNPLA2, POMT1, SGCA, SGCB, SGCD, SGCG, SYNE1, TCAP, TRIM32, TTN,  VMA21
TK-18 Lissencephaly	15	ACTB, ACTG1, ARX, ATP6V0A2, DCX, FKTN, ISPD, LAMB1, LARGE, PAFAH1B1,  POMT1, RELN, TUBA1A, VLDLR, YWHAE
TK-19 Macrocephaly/Overgrowth  Syndrome	36	AKT1, AKT3, ASPA, BRWD3, CDKN1C, CUL4B, DHCR24, DIS3L2, EIF2B5, EZH2, GFAP,  GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KIAA0196, KIF7, L1CAM, MED12,  MLC1, NFIX, NSD1, OFD1, PIGA, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135,  SYN1, TSC1, TSC2, UPF3B
TK-20 Microcephaly and Pontocerebellar  Hypoplasia	38	AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1, DYRK1A,  EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1, MRE11A, MYCN, NDE1,  NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH, PNKP, POMT1, PQBP1, RARS2, RTTN,  SEPSECS, STIL, TSEN2, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62
TK-21 Migraine	9	ATP1A2, ATP1A3, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3,  SLC2A1
TK-22 Parkinson Disease	19	ATP1A3, ATP13A2, FBXO7, GCH1, LRRK2, MAPT, PARK2, PARK7, PDGFB,  PDGFRB, PINK1, PLA2G6, SLC6A3, SLC20A2, SNCA, SPR, TH, VPS13A,  VPS35
TK-23 Periodic Paralysis	4	CACNA1S, CLCN1, KCNJ2, SCN4A
TK-24 Polymicrogyria	10	AKT3, GPSM2, LAMC3, NDE1, NSDHL, SRPX2, TUBA1A, TUBA8, TUBB3,  WDR62
TK-25 Spastic Paraplegia	46	ABCD1, AFG3L2, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, ARG1, ATL1, BSCL2,  BTD, CTNNB1, CYP7B1, CYP27A1, DDHD1, FA2H, FARS2, FXN, GALC,  GBE1, GCH1, GJC2, HACE1, KDM5C, KIAA0196, KIF1A, KIF5A, L1CAM,  L2HGDH, NIPA1, PAH, PLP1, PNPLA6, REEP1, SACS, SETX, SLC16A2,  SLC25A15, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPR, TH, ZFYVE26
TK-26 Spinal Muscular Atrophy	24	AARS, ASAH1, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, EXOSC3, GARS,  HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PLEKHG5, REEP1, SCO2,  SLC5A7, TBCE, TRPV4, UBA1, VAPB, VRK1
TK-27 Tuberous Sclerosis	2	TSC1, TSC2
TK-28 X-linked Intellectual Disability	94	ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, AT P7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLCN4, CUL4B, DCX, DKC1,  DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3,  HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2,  KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2,  MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X,  NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1,  PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10,  RPL10, RPS6KA3, SHROOM4, SLC6A8, SLC9A6, SLC16A2, SMC1A, SOX3,  SRPX2, SYN1, SYP, TAF1, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12,  ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711

Retinal dystrophy is difficult to distinguish from similar disorders. Genetic diagnosis is the most effective way to group these diseases, providing personalized treatment and monitoring strategies as well as information on genetic pathways and prognosis. In particular, it gives patients the opportunity to be treated with advanced therapies.

OPHTHALMOLOGY	NO. OF GENES	GENES
MAT-01 Achromatopsia	7	CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP
MAT-02 Cataract	60	ABCB6, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, BCOR, BFSP1,  BFSP2, CHMP4B, COL2A1, COL4A1, COL11A1, COL18A1, CRYAB,  CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD,  CTDP1, CYP27A1, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1,  FAM126A, FOXE3, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2,  GJA3, GJA8, HSF4, MAF, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6,  PITX3, RAB3GAP1, RECQL4, SIL1, SLC16A12, SLC33A1, TDRD7,  TFAP2A, TMEM70, VSX2, WFS1, WRN
MAT-03 Cone Rod Dystrophy	35	ABCA4, ADAM9, ADAMTS18, AIPL1, BEST1, C8ORF37, CABP4,  CACNA1F, CACNA2D4, CDHR1, CERKL, CLN3, CNGA3, CNGB3,  CNNM4, CRB1, CRX, CYP4V2, GNAT2, GUCA1A, GUCY2D, KCNV2,  MERTK, PDE6C, PDE6H, PITPNM3, PRPH2, RAX2, RDH5, RGS9,  RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A
MAT-04 Congenital stationary Night Blindness	16	CABP4, CACNA1F, CACNA2D4, CYP4V2, GNAT1, GPR179, GRM6,  NYX, PDE6B, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1
MAT-05 Corneal Dystrophy	26	CHRDL1, CHST6, COL5A1, COL8A2, COL17A1, CYP4V2, DCN, FOXE3,  GJA8, GSN, KERA, KRT3, KRT12, LCAT, LOXHD1, MAF, PIKFYVE,  PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1,  ZNF469
MAT-06 Ectopia Lentis	12	AASS, ADAMTS10, ADAMTS17, ADAMTSL4, BCOR, CBS, COL18A1,  FBN1, LTBP2, PORCN, SUOX, VSX2
MAT-07 Flecked Retina Disorders	11	ABCA4, CHM, CYP4V2, ELOVL4, PLA2G5, PRPH2, RDH5, RHO, RLBP1,  RS1, VPS13B
MAT-08 Leber Congenital Amaurosis	24	AIPL1, ALMS1, BBS4, CABP4, CEP290, CNGA3, CRB1, CRX,  GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A,  NMNAT1, RD3, RDH5, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
MAT-09 Macular Dystrophy	28	CIB2, CLRN1, DFNB31, HARS, BEST1, CDH3, CERKL, CNGB3, CRB1,  CRX, EFEMP1, ELOVL4, IMPG2, MFSD8, PRPH2, RAX2, RDH5,  RDH12, RLBP1, RP1L1, RPGR, RS1, PCDH15, PDZD7, PEX1, USH1C,  USH1G, USH2A
MAT-10 Microphthalmia, Anophthalmia and  Anterior Segment Dysgenesis	45	ABCB6, ADAMTS18, BCOR, BMP4, CHD7, COL4A1, COX7B, CYP1B1,  ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, FOXL2, FRAS1, FREM1,  FREM2, GRIP1, HCCS, HESX1, HMX1, MFRP, MITF, NAA10, NDP,  OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, PRSS56, RAB3GAP1, RAX,  RBP4, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TFAP2A, VPS13B,  VSX2, ZIC2
MAT-11 Neuro- Ophthalmology	29	ACO2, APTX, CHN1, CISD2, FRMD7, GPR143, HESX1, KIF21A, MFN2,  NDUFS1, OPA1, OPA3, OTX2, PAX6, PHOX2A, POLG, PRPS1,  ROBO3, RRM2B, SALL4, SETX, SLC25A4, SOX2, SPG7, TIMM8A,  TK2, TMEM126A, TUBB3, TYMP, WFS1
MAT-12 Optic Atrophy	13	ACO2, CISD2, MFN2, NDUFS1, OPA1, OPA3, POLG, PRPS1, SLC52A2,  SPG7, TIMM8A, TMEM126A, WFS1
MAT-13 Retinal Dystrophy	213	ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, AHI1, AIPL1, ALMS1,  ARL6, ARL13B, B9D1, B9D2, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9,  BBS10, BBS12, BEST1, C2ORF71, C5ORF42, C8ORF37, CA4,  CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH3, CDH23, CDHR1,  CEP41, CEP164, CEP290, CERKL, CHM, CIB2, CISD2, CLN3, CLRN1,  CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL2A1, COL9A1,  COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CRB1, CRX,  CTC1, CTNNB1, CYP4V2, DFNB31, DHDDS, EFEMP1, ELOVL4,  EYS, FAM161A, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNPTG,  GPR179, GRM6, GUCA1A, GUCY2D, HGSNAT, HK1, HMX1, IDH3B,  IFT140, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13,  KCNV2, KIF7, KIF11, KLHL7, LCA5, LRAT, LRP2, LRP5, LZTFL1, MAK,  MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP,  MVK, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3,  NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCDH15,  PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX3,  PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16,  PEX19, PEX26, PHYH, PITPNM3, PLA2G5, PNPLA6, PRCD, PRKCG,  PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, PRPS1, RAX2, RBP3, RBP4,  RD3, RDH5, RDH12, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1,  ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1, RS1,  SAG, SDCCAG8, SEMA4A, SLC24A1, SNRNP200, SPATA7, TCTN1,  TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM67, TMEM126A,  TMEM138, TMEM216, TMEM231, TMEM237, TOPORS, TREX1,  TRIM32, TRPM1, TSPAN12, TTC8, TTC21B, TTPA, TULP1, USH1C,  USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, ZNF423,  ZNF513, HARS
MAT-14 Retinal Pigmentosa	67	EYS, FAM161A, FLVCR1, GNPTG, GUCY2D, HGSNAT, HK1, IDH3B,  IFT140, IMPDH1, IMPG2, INPP5E, KLHL7, LCA5, LRAT, MAK,  MERTK, MFRP, MVK, NMNAT1, NR2E3, NRL, OAT, OFD1, PDE6A,  PDE6B, PDE6G, PEX1, PEX2, PEX7, PHYH, PITPNM3, PLA2G5,  PRCD, PRKCG, PRPF3, PRPF8, PRPF31, PRPH2, RBP3, RBP4, RDH5,  RDH12, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RPE65, RPGR,  RPGRIP1, RS1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8,  TTPA, TULP1, USH1C, USH2A, VPS13B, WDR19, ZNF513
MAT-15 Retinitis Pigmentosa Vitreoretinopathy	19	BEST1, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2,  COL18A1, CTC1, CTNNB1, FZD4, KCNJ13, KIF11, LRP5*, NDP,  NR2E3, RS1, TSPAN12, VCAN
MAT-16 Glaucoma	17	CNTNAP2, COL4A1, CYP1B1, FOXC1, FOXE3, LMX1B, LTBP2, MAF,  MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, TEK, TMEM126A, WDR36

Genetic diagnosis is the most effective way to group hereditary respiratory diseases, providing the information needed for personalized treatment and monitoring strategies. Furthermore, it also assists in counseling at-risk families, facilitating preventive treatment and lifestyle recommendations, routine follow-ups by a physician as well as for family planning.

PULMONOLOGY	NO. OF GENES	GENES
HH-01 Bronchiectasis	15	CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11,  DNAI1, DNAI2, DNAL1, NME8, RSPH4A, RSPH9, SCNN1A, SCNN1B
HH-02 Central Hypoventilation and Apnea	15	CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GLRA1,  MECP2, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2
HH-03 Cystic Fibrosis	1	CFTR
HH-04 Interstitial Lung Disease	21	ABCA3, CSF2RA, CSF2RB, DKC1, HPS1, HPS4, ITGA3, NF1, NKX2-1,  SFTPA1, SFTPA2, SFTPB, SFTPC, SLC7A7, SLC34A2, SMPD1, STAT3,  TERT, TINF2, TSC1, TSC2
HH-05 Neonatal Respiratory Distress – Surfactant Dysfunction	5	ABCA3, FOXF1, NKX2-1, SFTPB, SFTPC
HH-06 Primary Ciliary Dyskinesia	19	CCDC39, CCDC40, CCDC103, CFTR, DNAAF1, DNAAF2, DNAAF3,  DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, INVS, LRRC6, NME8,  OFD1, RPGR, RSPH4A, RSPH9
HH-07 Pulmonary Artery Hypertension  (PAH)	9	ACVRL1, BMPR2, CAV1, ENG, FOXF1, KCNA5, NFU1, SMAD4, TBX4

Genetic diagnosis is the most effective way to group these diseases, providing the necessary information for personalized treatment and monitoring strategies. Detection of pathogenic mutations is important for adequate genetic counseling and family planning.

MALFORMATIONS	NO. OF GENES	GENES
DT-01 Comprehensive Short stature  Syndrome	20	ATR, BCS1L, CCDC8, CDC6, CDT1, CENPJ, CEP63, CEP152, CUL7, NOTCH2,  OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RTTN, SRCAP, TRIM37
DT-02 Amelogenesis Imperfecta and  Dentinogenesis Imperfecta	12	AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, KLK4,  LAMB3, LTBP3, MMP20, WDR72
DT-03 Arthrogryposis	63	ACTA1, AGRN, BIN1, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND,  CHRNE, CHRNG, CHST14, CHUK, COL6A2, COLQ, DHCR24, DOK7,  DPAGT1, EGR2, ERBB3, ERCC5, ERCC6, EXOSC3, FBN2, FHL1, FKBP10,  FKTN, FLVCR2, GBA, GBE1, GFPT1, GLE1, KAT6B, LMNA, MPZ, MTM1,  MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, PLOD2, PMM2, RAPSN,  RARS2, RIPK4, SCO2, SMN2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TPM2,  TPM3, TRPV4, TSEN2, TSEN54, UBA1, VIPAS39, VPS33B, VRK1
DT-04 Brachydactyly/syndactyly	19	BMP2, BMPR1B, CHSY1, DHCR7, ESCO2, FAM58A, GDF5, GNAS, HOXA13,  HOXD13, IHH, MYCN, NOG, PDE4D, PTHLH, RECQL4, ROR2, SOX9,  TP63
DT-05 Chondrodysplasia Punctata	9	AGPS, ARSE, EBP, GNPAT, LBR, NSDHL, PEX7, PEX14, PEX19
DT-06 Cleft Lip/Palate and Associated  Syndromes	14	COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, FOXE1,  IRF6, KDM6A, KMT2D, MSX1, SATB2, TBX22, TP63
DT-07 Comprehensive Skeletal Dysplasias  and Disorders	235	CLCN5, CLCN7, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2,  COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP,  CREBBP, CRTAP, CTSK, CUL7, CYP27B1, DDR2, DHCR7, DHCR24, DHODH,  DLL3, DLX3, DLX5 ,DMP1, DOCK6, DYM, DYNC2H1, EBP, EFNB1, EFTUD2,  EIF2AK3, ENAM, ENPP1, EP300, ERCC4, ESCO2, EVC, EVC2, EXT1, EXT2,  EZH2, FAM20A, FAM20C, FAM58A, FAM83H, FANCA, FANCB, FANCC,  FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FBN2,  FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB,  GALNT3, GDF5, GH1, GHR, GHRHR, GLI2, GLI3, GNAS, GNPAT, GPC6,  HDAC8, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS*, IFITM5, IFT43,  IFT80, IFT122, IFT140, IGF1, IGF1R, IHH, IMPAD1, INSR, KAT6B, KIF7,  KIF22, KRAS, LBR, LEMD3, LHX3, LHX4, LIFR, LMNA, LMX1B, LRP4, LRP5,  LTBP2, LTBP3, MAFB, MAP2K1, MAP2K2, MATN3, MBTPS2, MESP2,  MGP, MMP2, MMP9, MMP13, MSX2, MYCN, NF1, NFIX, NIPBL, NKX3- 2, NOG, NOTCH1, NOTCH2, NPR2, NRAS, NSD1, NSDHL, OBSL1, ORC1,  ORC4, ORC6, OSTM1, OTX2, PALB2, PAPSS2, PCNT, PDE4D, PEX7,  PEX14, PEX19, PHEX, PIK3CA, PITX2, PLOD2, POC1A, POLR1C, POLR1D,  POR, POU1F1, PPIB, PRKAR1A, PROP1, PTH1R, PTHLH, PTPN11, PYCR1,  RAD21, RAD51C, RAF1, RBBP8, RBPJ, RECQL4, ROR2, RTTN, RUNX2,  SALL1, SALL4, SERPINF1, SERPINH1, SETBP1, SF3B4, SH3BP2, SH3PXD2B,  SHOC2, SHOX, SKI, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13,  SLCO2A1, SLX4, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SOS1,  SOST, SOX2, SOX3, SOX9, SP7, SRCAP, STAT5B, TBX3, TBX4, TBX5, TBX15,  TBX19, TCIRG1, TCOF1, TCTN3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2,  TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRIM37, TRIP11, TRPS1, TRPV4,  TTC21B, TWIST1, TYROBP, VDR, VIPAS39, WDR19, WDR35, WISP3,  WNT5A, WNT7A
DT-08 Cornelia de Lange Syndrome	5	HDAC8, NIPBL, RAD21, SMC1A, SMC3
DT-09 Craniosynostosis	32	ALPL, ALX3, ALX4, BMP4, EDNRB, EFNB1, ESCO2, FGFR1, FGFR2, FGFR3,  FLNB, FREM1, GDF5, GLI3, IFT122, IFT140, IL11RA, MASP1, MSX2, NOG,  PAX3, POR, RAB23, RECQL4, SKI, SOX10, TGFBR1, TGFBR2, TWIST1,  TWIST2, WDR19, WDR35
DT-10 Exostosis and Related Disorders	3	EXT1, EXT2, PTPN11
DT-11 Facial Dysostosis and Related  Disorders	26	ALPL, ALX3, ALX4, CREBBP, DHODH, DLL3, EFNB1, EFTUD2, EHMT1,  EP300, EVC, EVC2, HDAC8, HSPG2, LIFR, MYCN, NIPBL, POLR1C,  POLR1D, SF3B4, SMC1A, SMC3, SRCAP, TCOF1, TWIST1, UBE2A
DT-12 Gastrointestinal Atresia	12	CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MYCN,  PTF1A, RFX6, SOX2
DT-13 Heterotaxy and Situs Inversus	21	ACVR2B, ANKS6, CCDC39, CCDC40, CCDC103, DNAAF1, DNAAF2,  DNAAF3, DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, DYX1C1, FOXH1,  GDF1, INVS, LEFTY2, LRRC6, NODAL, ZIC3
DT-14 Limb Malformations	18	ACVR2B, CCDC39, CCDC40, CCDC103, DNAAF1, DNAAF2,  DNAAF3, DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, FOXH1, GDF1,  INVS, LRRC6, NODAL, ZIC3
DT-15 Lymphatic Malformations and  Related Disorders	9	CCBE1, FLT4, FOXC2, GATA2, GJC2, KIF11, PIK3CA, RASA1, SOX18
DT-16 Macrocephaly/Overgrowth Syndrome	36	AKT1, AKT3, ASPA, BRWD3, CDKN1C, CUL4B, DHCR24, DIS3L2,  EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM,  HUWE1, KIAA0196, KIF7, L1CAM, MED12, MLC1, NFIX, NSD1,  OFD1, PIGA, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135,  SYN1, TSC1, TSC2, UPF3B
DT-17 Meier-Gorlin Syndrome	5	CDC6, CDT1, ORC1, ORC4, ORC6
DT-18 Microcephaly and Pontocerebellar Hypoplasia	38	AKT3, ASPM, ATR, CASK, CDK5RAP2, CENPJ, CEP63, CEP152, DYNC1H1,  DYRK1A, EFTUD2, EXOSC3, GFM1, KIF11, LIG4, MBD5, MCPH1,  MRE11A, MYCN, NDE1, NHEJ1, OPHN1, PAFAH1B1, PCNT, PHGDH,  PNKP, POMT1, PQBP1, RARS2, RTTN, SEPSECS, STIL, TSEN2, TSEN54,  TUBB2B, TUBGCP6, VRK1, WDR62