Gene panels including all genes

For questions about the best diagnostic options, call us at +49 6132 781-240.

Request form: Molecular genetic analyses”

A

Achromatopsia (ACHM)

CNGA3, CNGB3, GNAT2, PDE6C

ADPKD (autosomal-dominant polycystic kidney disease)

PKD1, PKD2, LRP5

Aicardi-Goutières syndrome

ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1

Alagille syndrome

JAG1, NOTCH2

Albinism

C10orf11, GPR143, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, SLC38A8

Alport syndrome

COL4A5, COL4A4, COL4A3, MYH9

Alzheimer’s disease

Upon request

Amyotrophic lateral sclerosis (ALS)

ALS2, ANG, C9orf72, CHMP2B, FIG4, FUS, OPTN, PFN1, PRPH, SIGMAR1, SOD1, TARDBP, UBQLN2, VAPB, VCP, ATXN2, CHGB, DAO, DCTN1, NEFH, NR1H3, PON1, PON2, PON3, SETX, SMN1, SPG20, VEGFA, VPS54

Angelman syndrome

ADSL, ATRX, CDKL5, EHMT1, FOXG1, MECP2, MEF2C, SLC9A6, TCF4, UBE3A, ZEB2

Anophthalmia/microphthalmia

ALDH1A3, BCOR, BMP4, GDF3, GDF6, HCCS, HESX1, MFRP, OTX2, PAX6, PQBP1, RAX, SHH, SIX6, SMOC1, SOX2, STRA6, VSX2, ABCB6, ATOH7, BMP7, C12orf57, FOXE3, HMGB3, PORCN, RARB, SALL2, TENM3, VAX1, YAP1

Aortic aneurysm

ACTA2, COL11A1, COL12A1, FBN1, FBN2, FLNA, FLNB, MYH11, MYLK, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2

Aortopathy

ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2, ADAMTS10, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN2, FLNA, MFAP5, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD4, TGFB2

ARPKD (autosomal-recessive polycystic kidney disease)

PKHD1

Arrhythmogenic right ventricular dysplasia/ cardiomyopathy (ARVD/ARVC)

DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, TGFB3, TMEM43, CTNNA3, RPSA, RYR2

Arthrogryposis

ACTA1, ECEL1, FBN2, GLE1, MYBPC1, MYH3, TNNI2, TNNT3, TPM2, ADGRG6, ALG3, BIN1, CFL2, CHRNA1, CHRND, CHRNG, CHST14, CNTN1, COL6A2, DHCR24, DOK7, DPAGT1, EGR2, ERBB3, ERCC1, ERCC2, ERCC5, ERCC6, EXOSC3, FHL1, FKTN, GBA, GBE1, IBA57, MEGF10, MPZ, MTM1, MYH2, MYH8, NEB, PIP5K1C, PLOD2, PMM2, RAPSN, RIPK4, SCARF2, SEPN1, SEPSECS, TK2, TNNT1, TPM3, TRPV4, TSEN2, TSEN34, TSEN54, VIPAS39, VPS33B, VRK1

Atactic polyneuropathy

ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN8OS, DARS2, FGF14, FXN, IFRD1, MRE11A, NOP56, PEX10, PPP2R2B, RNF170, SACS, SIL1, TBP, TDP1, TTPA

Ataxia

ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, ALG6, ANO10, APTX, ATCAY, ATM, ATN1, ATP7B, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, BEAN1, BTD, C10orf2, CA8, CACNA1A, CAMTA1, CHMP1A, CP, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EXOSC3, FGF14, FLVCR1, FXN, GALC, GCLC, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, MRE11A, MTPAP, NEU1, NOP56, NPC1, NPC2, OPHN1, OTUD4, PDHX, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PMM2, POLG, PPP2R2B, PRKCG, RARS2, RNF170, RNF216, RUBCN, SACS, SETX, SIL1, SLC17A5, SLC1A3, SPR, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM216, TMEM67, TSEN2, TSEN34, TSEN54, TTBK2, TTPA, VLDLR, VRK1, WFS1, WWOX, ZNF592

Ataxia, autosomal-dominant

AFG3L2, BEAN1, FGF14, ITPR1, KCNC3, PDYN, POLG, SPTBN2

Ataxia, autosomal-recessive

ANO10, APTX, ATM, C10orf2, SETX, SIL1, TTPA

Auditory neuropathy

DFNB59, DIAPH3, OTOF

Autoinflammation

ELANE, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFRSF1A, AP1S3, CARD14, CECR1, FOXD3, HAX1, IL10, IL10RA, IL10RB, NLRC4, NLRP1, NLRP7, RAB27A, RBCK1, RNF31, SH3BP2, SLC29A3, TMEM173, TNFRSF11A

close

B

Bardet-Biedl syndrome

BBS1, BBS10, BBS2, BBS12, BBS4, BBS7, BBS9, CEP290, MKKS, MKS1, TTC8, ALMS1, ARL6, BBIP1, BBS5, IFT172, IFT27, LZTFL1, SDCCAG8, TRIM32, WDPCP

Bartter/Gitelman syndrome

BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, SLC12A1, SLC12A3, AP2S1

BOR syndrome

EYA1,SIX1,SIX5

Brugada syndrome

CACNA1C, CACNA2D1, CACNB2, HCN4, KCNE3, SCN3B, SCN5A, TRPM4, ABCC9, GPD1L, KCND3, KCNE5, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SLMAP

Burkitt lymphoma

CCND3, GNA13, ID3, MYC, TP53

close

C

C1Q deficiency

C1QA, C1QB, C1QC

C3 glomerulopathies (C3G)

see aHUS

CAKUT (congenital anomalies of the kidneys and urinary tract)

BICC1, BMP4, EYA1, GATA3, HNF1B, ITGA8, PAX2, RET, ROBO2, SALL1, TBX18, ACE, AGT, AGTR1, CDC5L, CHD1L, DSTYK, FANCB, FRAS1, FREM1, FREM2, GDNF, GLIS3, LHX1, PAX8, REN, RET, SALL4, SIX1, SIX2, SIX5, SLIT2, SOX17, TUBAL3, UPK2, UPK3A, WNT4, WWTR1

Cardiofaciocutaneous syndrome

See Noonan syndrome

Cardiomyopathy, dilated

DES, DSP, LMNA, MYH7, RBM20, TNNT2, TPM1, VCL, ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DMD, DSC2, DSG2, EYA4, FKTN, GATAD1, GLA, ILK, JUP, LAMA4, LAMP2, LDB3, MYBPC3, MYH6, MYL2, MYPN, NEXN, PLN, PRDM16, PSEN1, PSEN2, RAF1, SCN5A, SDHA, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TTN

Cardiomyopathy, hypertrophic

ACTC1, ACTN2, ANKRD1, CSRP3, FHL1, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, MYOZ2, NEXN, PLN, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR, CALR3, CAV3, DES, JPH2, LDB3, MYH6, MYLK2, MYPN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, SLC25A4, TAZ, TBX20, TCAP, TMPO, TTN, VCL

Cataract

AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, EYA1, FOXE3, FTL, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, PITX3, ABCA3, AGPS, AKR1E2, CLPB, CTDP1, CYP27A1, CYP51A1, EPG5, EPHA2, FAM126A, FAR1, FOXC1, FYCO1, GALK1, GALT, GNPAT, JAM3, MFSD6L, MIR184, MYH9, NHS, NID1, P3H2, PAX6, PEX7, PXDN, RNLS, SIL1, SLC16A12, SLC33A1, SORD, TBC1D20, TDRD7, TMEM114, VAV2, VAV3, VIM, VSX2, WFS1, XYLT2

CFHR5 nephropathy

see aHUS

Charcot-Marie-Tooth disease

AARS, GARS, GDAP1, GJB1, HARS, HSPB1, KARS, KIF1B, MED25, MFN2, MPZ, NEFL, TRPV4, AMACR, ARHGEF10, BAG3, BSCL2, COX10, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GANHINT1, HK1, HSPB8, INF2, LITAF, LMNA, LRSAM1, MT-ATP6, MTMR2, NDRG1, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SLC12A6, TEKT3, TFG, YARS

CHARGE syndrome

CHD7

Chediak-Higashi syndrome

LYST

Chondrodysplasia punctata

Upon request

Cockayne syndrome

ERCC6, ERCC8

Coenzyme Q10 deficiency

ADCK3, ANO10, APTX, COQ2, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2

Cohesinopathies (e.g. Cornelia de Lange syndrome)

Upon request

Colon carcinoma

APC, BLM, BMPR1A, CDK7, ENG, EPCAM, FLCN, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PIK3CA, PMS1, PMS2, POLD1, POLE, PTEN, SMAD2, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TP53

Colon carcinoma, hereditary non-polyposis (HNPCC)

EXO1, MLH1, MSH2, MSH6, PMS2, TP53, EPCAM, MLH3, MSH3, PMS1, TGFBR2

Combined pituitary hormone deficiency

See hypopituitarism

Cone-rod dystrophy/macular dystrophy

ABCA4, BEST1, CDHR1, CNGA3, PDE6C, PROM1, PRPH2, RP1L1, ACBD5, ADAM9, AIPL1, C1QTNF5, C21orf2, C8orf37, CABP4, CACNA1F, CACNA2D4, CDH3, CERKL, CNGB3, CNNM4, CRX, DRAM2, ELOVL4, FBLN5, GUCA1A, GUCA1B, GUCY2D, HMCN1, ITM2B, KCNV2, MERTK, MFSD8, MT-ATP6, MT-TL1, PCYT1A, PITPNM3, PLK4, POC1B, PRDM13, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TEAD1, TIMP3, TTLL5, TUBGCP4, TUBGCP6, UNC119, WASF3

Congenital disorder of glycosylation (CDG syndrome)

Upon request

Congenital fibrosis of the extraocular muscles

KIF21A, PHOX2A, TUBB3

Congenital heart defect

Upon request

Corneal dystrophy

AGBL1, COL8A2, CYP4V2, DCN, FOXE3, KLHL20, LOXHD1, SLC4A11, TGFBI, VSX1, ZEB1, COL17A1, TCF4

Cornelia de Lange syndrome

Upon request

Craniosynostosis

Upon request

Cutaneous T cell lymphoma

CD28, DNMT3A, PLCG1, RHOA, TP53

Cystinuria

SLC3A1, SLC7A9

close

D

Deafness, autosomal-dominant, non-syndromic

DIAPH1, MYO7A, MYH9, TECTA, ACTG1, CCDC50, CEACAM16, COCH, COL11A2, CRYM, DFNA5, DIABLO, ESPN, EYA4, GJB2, GJB3, GJB6, GRHL2, HOMER2, KCNQ4, MIR96, MYH14, MYO6, OSBPL2, P2RX2, POU4F3, PTPRQ, SIX1, SLC17A8, TBC1D24, TJP2, TMC1, TNC

Deafness, autosomal-recessive, non-syndromic

CDH23, GJB2, MYO15A, OTOF, SLC26A4, ADCY1, ATP2B2, BDP1, CABP2, CIB2, CLDN14, CLIC5, CLPP, COL11A2, DCDC2, DFNB59, ELMOD3, EPS8, ESPN, ESRRB, FAM65B, GIPC3, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRT-OMT, MARVELD2, MRPS7, MSRB3, MYO3A, MYO6, MYO7A, OTOA, OTOG, OTOGL, PCDH15, PNPT1, PTPRQ, RDX, SERPINB6, SLC26A5, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WHRN

Deafness, X-linked

COL4A6, POU3F4, PRPS1, SMPX, TIMM8A

Dense-deposit disease (DDD)

see aHUS

Dent syndrome

CLCN5, OCRL

Diabetes insipidus

AQP2, AVPR2

Diabetes mellitus, monogenic

ABCC8, EIF2AK3, FOXP3, GATA6, GCK, HNF1A, HNF4A, INS, INSR, KCNJ11, PAX6, PDX1, SLC2A2, AGPAT2, ALMS1, BLK, BSCL2, CAV1, CDK4, CEL, CIDEC, CISD2, DNAJC3, GATA4, GLIS3, HNF1B, HYMAI, IER3IP1, KLF11, LMNA, LMNB2, MC4R, MNX1, NEUROD1, NEUROG3, NKX2-2, NTRK2, PAX4, PCSK1, PLAGL1, PPARG, PTF1A, PTRF, RFX6, SH2B1, SLC19A2, TRMT10A, WFS1, WRN, ZFP57, ZMPSTE24

Diabetes mellitus, neonatal

ABCC8, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, MNX1, NKX2-2, PDX1, PTF1A, WFS1, ZFP57, CISD2, HNF1A, HNF4A, HYMAI, NEUROD1, NEUROG3, PLAGL1, RFX6, SLC19A2, SLC2A2

Diabetes, MODY

ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1

Diffuse large B cell lymphoma

BTG1, CARD11, CD58, CD79B, CREBBP, EP300, EZH2, FOXO1, GNA13, GNAI2, KMT2D, MEF2B, MYD88, PCLO, PIM1, SOCS1, STAT3, TNFRSF14, TP53

Dwarfism, endocrine

GH1, GHR, GHRH, GHRHR, HESX1, IGF1, IGF1R, IGF2, IGFALS, LHX3, LHX4, OTX2, POU1F1, PROP1, SHOX, SOX3, STAT5B, IFT172

Dyskeratosis congenita

Upon request

Dystonia

Upon request

close

E

EAST syndrome

KCNJ10

Ehlers-Danlos syndrome

COL3A1, COL5A1, COL5A2, ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL2A1, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469

Ectodermal dysplasia

Upon request

Ellis-van-Crefeld syndrome

EVC, EVC2

Epidermolysis bullosa

COL17A1, COL7A1, KRT14, KRT5, LAMA3, LAMB3, LAMC2, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT10, MMP1, PKP1, PLEC

Epilepsies

Upon request

Epilepsies, metabolic

Upon request

Epileptic encephalopathy, early infantile

ALDH7A1, CHD2, KCNQ2, POLG, SCN1A, SCN2A, SLC2A1, ALG13, ARHGEF9, ARX, ATRX, BRAT1, CDKL5, CNTNAP2, DNM1, DOCK7, EHMT1, FOXG1, GABBR2, GABRB3, GABRG2, GAMT, GNAO1, GPHN, GRIN2A, GRIN2B, KCNA2, KCNB1, KCNJ10, KCNT1, MECP2, MEF2C, MOCS1, MOCS2, NRXN1, PCDH19, PHF6, PIGQ, PLCB1, PNKP, PNPO, ROGDI, SAMHD1, SCN1B, SCN8A, SLC25A22, SLC6A1, SLC9A6, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TCF4, UBE3A, WWOX, ZEB2

close

F

Familial exudative vitreoretinopathy (FEVR)

CAPN5, FZD4, KCNJ13, LRP5, NDP, RS1, TSPAN12, TUBGCP4, VCAN, ZNF408, COL11A1, COL18A1, COL2A1, COL9A1

Familial hemiplegic migraine

CACNA1A, SCN1A

Familial hypercholesterolemia

See hypercholesterolemia

FAMMM syndrome

BAP1, BRCA2, CDKN2A, MC1R, MITF, POT1, PTEN, TP53

Fanconi anemia

BRCA2, BRIP1, FANCA, FANCC, FANCE, PALB2, FANCB, FANCD2, FANCF, FANCG, FANCI, FANCL, FANCM, RAD51C, SLX4, XRCC2

Fatty acid oxidation disorders

ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, SLC22A5, SLC25A20

Flecked retina syndrome

CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B

Follicular lymphoma

CREBBP, EP300, EZH2, KMT2D, MEF2B

Frontotemporal dementia

Upon request

close

G

Gastric cancer

AMER1, CTNNB1, DKK2, DKK4, ERCC6, ERCC8, FZD1, MAP3K6, SPRED1, WIF1, WISP1, WNT1, WNT10A, WNT10B, WNT11, WNT2, WNT2B, WNT3, WNT4, WNT5A, WNT8A, WNT9A, WNT9B

Generalised epilepsy with febrile seizures plus

GABRD, GABRG2, SCN1A, SCN1B, SCN2A

Glaucoma

CNTNAP2, CYP1B1, FOXC1, FOXE3, LMX1B, LOXL1, LTBP2, MAF, MYOC, NTF4, OPTN, PITX2, WDR36, CAV1, CAV2, CDKN2B, ELOVL5, GALC, KLHL26, PAX6, PITX3, SIX1, SIX6, SRBD1, TBK1, TMCO1, TSHZ2

Glomerulosclerosis, focal-segmental (FSGS)

ACTN4, CD2AP, COL4A3, COL4A4, COL4A5, INF2, TRPC6

Glucocorticoid deficiency, familial

CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR3C1, POMC, STAR

Gluconeogenesis

FBP1, PCK1, PCK2

Glycogen storage disease

AGL, G6PC, GBE1, GYS1, GYS2, PHKA1, PHKA2, PHKB, PHKG2, PYGL, SLC2A2, SLC37A4, FBP1, PGM1, PRKAG2, PRKAG3

Growth hormone deficiency

Upon request

close

H

Hemolytic-uremic syndrome, atypical (aHUS)

ADAMTS13, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, MMACHC, THBD

Hereditary motor and sensory neuropathy (HMSN)

AARS, AMACR, ARHGEF10, BAG3, BSCL2, COX10, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, HARS, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MT-ATP6, MTMR2, NDRG1, NEFL, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC12A6, TEKT3, TFG, TRPV4, TTR, YARS

Hereditary motor and sensory neuropathy (axonal)

AARS, GARS, GDAP1, GJB1, HARS, HSPB1, KARS, KIF1B, MED25, MFN2, MPZ, NEFL, TRPV4

Hereditary motor and sensory neuropathy (demyelinating)

FBLN5, FGD4, FIG4, GDAP1, GJB1, LITAF, MPZ, MTMR2, NEFL, PMP22, PRX, SBF2, SH3TC2

Hereditary sensory and autonomous neuropathy (HSAN)

ATL1, DNMT1, FAM134B, KIF1A, NGF, NTRK1, RAB7A, SPTLC1, SPTLC2, WNK1, CCT5, DST, FLVCR1, IKBKAP, PRNP, SCN9A

Hermansky-Pudlak syndrome

AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6

Heterotaxy syndrome

Upon request

Holoprosencephaly

Upon request

Hypercholesterolemia

APOB, LDLR, LDLRAP1, PCSK9, STAP1

Hyperekplexia

Upon request

Hyperinsulinism

ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, KCNQ1, KDM6A, SLC16A1, UCP2, ALG3, CACNA1C, KMT2D, MAFA, MPI, NSD1, PAX6, PGM1, PMM1, PMM2, TRMT10A

Hyperoxaluria

AGXT, GRHPR, HOGA1, SLC26A1

Hypertriglyceridemia

APOA5, APOC2, APOC3, GPD1, GPIHBP1, LMF1, LPL

Hypoglycemia

ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, KCNQ1, KDM6A, SLC16A1, UCP2, AKT2, ALDH7A1, ALG3, CACNA1C, CD36, GYS1, GYS2, KMT2D, MAFA, MEF2C, MPI, NSD1, PAX6, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2B, PIK3CA, PIK3R2, PMM1, PMM2, PTEN, PYGL, SLC2A2, TALDO1, TRMT10A

Hypogonadotropic hypogonadism

ANOS1, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1, KISS1R, NSMF, PROK2, PROKR2, TAC3, TACR3, WDR11, HS6ST1, SEMA3A

Hypomagnesemia

CASR, CLCNKB, CLDN16, CLDN19, FXYD2, HNF1B, KCNA1, SLC12A3, TRPM6,

Hypophosphatemic rickets/phosphate diabetes

ALPL, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, KL, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR, CYP2R1

Hypopituitarism

GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SHH, SOX2, SOX3

close

I

Ichthyosis and related keratinisation disorders

Upon request

Imerslund-Gräsbeck syndrome

AMN, CUBN

Inherited breast and ovarian cancer syndrome

BRCA1, BRCA2

Intrahepatic cholestasis of pregnancy

ABCB11, ABCB4, ATP8P1

close

J

Jervell and Lange-Nielsen syndrome

KCNE1, KCNQ1

Jeune syndrome

DYNC2H1, IFT140, IFT80, NEK1, WDR34, WDR35, CEP120, DPH1, DYNC2LI1, EVC, EVC2, IFT122, IFT172, IFT43, KIAA0586, TTC21B, WDR19, WDR60

Joubert syndrome

AHI1, CC2D2A, CEP290, NPHP1, RPGRIP1L, TMEM216, TMEM67, ARL13B, ATXN10, B9D1, B9D2, C5orf42, CEP120, CEP41, CSPP1, EXOC8, GLI3, HYLS1, IFT88, INPP5E, KIAA0586, KIF14, KIF7, MKS1, NPHP3, OFD1, PDE6D, PDPR, POC1B, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM231, TMEM237, TTC21B, ZNF423

close

K

Kallmann syndrome

ANOS1, CHD7, FGF8, FGFR1, HS6ST1, KISS1R, NSMF, PROK2, PROKR2, SEMA3A, TACR3, WDR11, GNRH1, GNRHR, KISS1, TAC3

Kartagener syndrome

See primary ciliary dyskinesia (PCD)

Ketogenesis disorder

HMGCL, HMGCS2

Ketolysis disorder

ACAT1, OXCT1

Kidney stone diseases

ADCY10, AGXT, ATP6V0A4, CLCN5, CLDN16, CYP24A1, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, APRT, ATP6V1B1, BSND, CA2, CASR, CLCNKB, CLDN14, CLDN19, CYP27B1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC17A3, SLC26A1, SLC26A6, SLC4A4, VDR, WNK1, WNK4, XDH

close

L

Larsen syndrome

Upon request

Leber’s congenital amaurosis (LCA)

ALMS1, CEP290, GUCY2D, RPGRIP1, ACBD5, ADAMTS18, AIPL1, BBS2, BBS4, CABP4, CCT2, CRB1, CRX, DHX38, DTHD1, GDF6, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MPDZ, MYO7A, NMNAT1, OTX2, POC1B, RD3, RDH12, RPE65, SPATA7, TULP1

Leber’s hereditary optic neuropathy

MT-ND1, MT-ND4, MT-ND6

Leigh syndrome

AARS2, ACAD9, ADCK3, BCS1L, COQ2, COQ6, COQ9, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1, C10orf2, DGUOK, EARS2, ECHS1, ETHE1, FBXL4, GFM1, LIAS, LIPT1, LRPPRC, MPV17, MTFMT, NDUFA1, NDUFAF5, NDUFS2, NDUFV1, PDHA1, PDSS1, PDSS2, PET100, POLG, RMND1, RRM2B, SCO1, SCO2, SERAC1, SLC19A3, SUCLA2, SUCLG1, TACO1, TK2, TMEM70, TRIT1, TRMU, TSFM, UQCRB

Leukemia, acute myeloid

ASXL1, CEBPA, FLT3, GATA1, GATA2, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, SRSF2, TP53, WT1, BCOR, DNMT3A, PTPN11, RAD21, STAG2, TET2, U2AF1

Leukemia, atypical chronic myeloid

ASXL1, CBL, CSF3R, ETNK1, SETBP1, SRSF2, TET2

Leukemia, chronic lymphatic

ATM, BIRC3, BTK, FBXW7, MYD88, NOTCH1, SF3B1, TP53, XPO1, CHD2, ZNF292

Leukemia, chronic myelomonocytic

ASXL1, CBL, EZH2, JAK2, KRAS, NRAS, RUNX1, SETBP1, SRSF2, TET2

Leukemia, T-cell acute lymphoblastic

CCR4, DNM2, DNMT3A, FAT1, FAT3, FBXW7, JAK3, NOTCH1, PHF6, PTEN, RUNX1, TP53, WT1

Leukoencephalopathy

AIMP1, ARSA, ASPA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, GALC, GFAP, GJC2, HEPACAM, MLC1, NOTCH3, PLP1, PSAP, ADAR, FAM126A, HSPD1, L2HGDH, POLR3A, POLR3B, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SUMF1, TREX1

Left ventricular non-compaction cardiomyopathy

ACTC1, LDB3, LMNA, MYBPC3, MYH7, SCN5A, TAZ, TINNI3, TNNT2, TPM1,  DTNA, MIB1, NNT, PRDM16

Limb-girdle muscular dystrophies (LGMD)

ANO5, CAPN3, CAV3, DES, DYSF, FKRP, FKTN, GAA, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, ALG2, DMD, DNAJB6, DOK7, GMPPB, PLEC, POMGNT1, POMT1, POMT2, TNPO3, TRAPPC11, TRIM32, TTN

Lissencephaly

ARX, DCX, FKRP, FKTN, LARGE, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, TUBA1A, ACTB, ACTG1, ADGRG1, ARFGEF2, B3GALNT2, B4GAT1, COL18A1, COL4A1, CPT2, EMX2, EOMES, FGFR3, FH, FLNA, GMPPB, IER3IP1, ISPD, LAMA2, LAMB1, LAMC3, MED12, PAX6, PEX7, PIK3CA, PIK3R2, POMGNT2, POMK, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RTTN, SNAP29, SRPX2, TMEM5, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62

Loeys-Dietz syndrome

Upon request

Long-QT syndrome

CACNA1C, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, ALG10, ANK2, CALM1, CALM2, CAV3, KCNJ2, KCNJ5, SCN4B, SNTA1, TRPM4

Lysosomal diseases

Upon request

close

M

Mainzer-Saldino syndrome

IFT140, IFT172

Malignant hyperthermia

Upon request

Mantle cell lymphoma

ATM, CCND1, NOTCH1, TP53, UBR5

Marfan syndrome

FBN1, TGFBR1, TGFBR2, MED12, UPF3B, ZDHHC9

Meckel-Gruber syndrome

B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67, AHI1, ARL13B, ATXN10, C5orf42, CEP120, CEP41, CSPP1, EXOC8, GLI3, HYLS1, IFT88, INPP5E, KIAA0586, KIF14, KIF7, NPHP1, NPHP3, OFD1, PDE6D, PDPR, POC1B, TCTN1, TCTN3, TMEM107, TMEM138, TMEM237, TTC21B, ZNF423

Medullary-cystic kidney disease (MCKD)

HNF1B, REN, UMOD, MUC1

Megalencephaly

Upon request

Membranoproliferative glomerulonephritis (MPGN)

See aHUS

Metabolic epilepsy

ALDH7A1, FOLR1, GAMT, GLDC, PNPO, POLG, SLC2A1, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, FH, GALC, GPHN, GRN, L2HGDH, MFSD8, MOCS1, MOCS2, PPT1, TPP1

Metaphyseal dysplasia

Upon request

Micromelic dysplasia

Upon request

Mitochondrial encephalopathy

AARS2, ACAD9, ACO2, ADCK3, AGK, AIFM1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, C10orf2, CARS2, CLPB, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX6B1, CPS1, CPT1A, CYC1, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GARS, GFAP, GFER, GFM1, GFM2, GTPBP3, HADHA, HADHB, IBA57, ISCA2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MICU1, MPC1, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PANK2, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, PTCD1, PTRH2, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG7, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM70, TPK1, TRIT1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, YARS2

Mitochondrial respiratory chain defect I

Upon request

Mitochondrial respiratory chain defect II

Upon request

Mitochondrial respiratory chain defect III

Upon request

Mitochondrial respiratory chain defect IV

Upon request

Mitochondrial respiratory chain defect V

Upon request

Mitochondriopathy

16 kb mitochondrial genome

Menière’s disease

DTNA, FAM136A

Mucopolysaccharidosis

ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH

Multiple epiphyseal dysplasia and pseudoachondroplasia

Upon request

Multiple myeloma

BRAF, DIS3, FAM46C, KRAS, NRAS, TP53

Muscle atrophy, distal, spinal

AR, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SETX, SMN1, UBA1, VAPB, VRK1

Muscle dystrophies, congenital

ANO5, CAPN3, DMD, DYSF, FKRP, LMNA, ACTA1, B3GALNT2, B4GAT1, BIN1, CCDC78, CFL2, CHKB, CNTN1, COL6A1, COL6A2, COL6A3, DAG1, FHL1, FKTN, GBE1, GMPPB, ISPD, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE, MEGF10, MTM1, NEB, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RYR1, SEPN1, TMEM5, TNNT1, TPM2, TPM3

Myasthenic syndrome, congenital

AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, GFPT1, MUSK, RAPSN

Myelodysplastic syndrome

ASXL1, CBL, EZH2, NRAS, RUNX1, SF3B1, SRSF2, TP53, U2AF1, ZRSR2, DNMT3A, ETV6, RAD21, SETBP1, STAG2, TET2

Myeloproliferative neoplasm

ASXL1, CALR, CBL, CSF3R, DNMT3A, EZH2, IDH1, IDH2, JAK2, KIT, MPL, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1

Myopathy, distal

ACTA1, MYH7, RYR1, TMP3, VCP, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYOT, NEB, TCAP, TIA1

Myopathy, metabolic

Upon request

Myotonia

Upon request

close

N

Neoplasia, multiple endocrine

MEN1, RET

Nephrocalcinosis

See kidney stone diseases

Nephronophthisis (NPHP)

CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, TMEM67, AGXT, ANKS6, CEP164, CEP83, DCDC2, FAN1, GLIS2, IFT172, MRE11A, NEK8, RPGRIP1L, SDCCAG8, SLC41A1, TTC21B, WDR19, XPNPEP3, ZNF423

Nephrotic syndrome, steroid-resistant (SRNS)

ADCK4, ARHGDIA, LAMB2, NPHS1, NPHS2 NUP107, NUP93, PLCE1, PTPRO, WT1, ACTN4, ALG13, ANLN, APOL1, ARHGAP24, AVIL, CD2AP, CDK20, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, DGKE, DLC1, EMP2, FAT1, FN1, GPC5, INF2, ITGA3, ITGB4, ITSN1, KANK1, KANK2, KANK4, LAMA5, LMX1B, LRP2, MAGI2, MT-TL1, MYH9, MYO1E, NPHP4, NUP133, NUP205, NXF5, PAX2, PDSS2, PODXL, SCARB2, SGPL1, SMARCAL1, SPRY2, TNS2, TRPC6, TTC21B, WDR73, XPO5

Neurodegeneration with brain iron accumulations

ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, GTPBP2, PANK2, PLA2G6, RAB39B, SCP2, WDR45

Neuronal ceroid lipofuscinosis (NCL)

CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1

Neuronal migration defects

ACTB, ACTG1, ADGRG1, ARFGEF2, ARX, COL18A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FLNA, IER3IP1, LAMA2, LAMB1, LAMC3, MED12, PAFAH1B1, PAX6, PEX7, PIK3CA, PIK3R2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62

Neutrophilic leukemia, chronic

ASXL1, CSF3R, SETBP1, SRSF2, TET2

Night blindness, congenital

CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, NYX, PDE6B, SLC24A1, TRPM1, LRIT3, RHO

Non-diabetic hyperglycemia

GLIS3

NK/T cell lymphoma

ARID1A, DDX3X, EP300, JAK3, KMT2D, MGA, STAT3, TP53

Noonan syndrome and related diseases

BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1

Norrie syndrome

NDP

Nystagmus

FRMD7, GPR143

close

O

Obesity

Upon request

Oligosaccharidosis

AGA, CTSA, FUCA1, MAN2B1, MANBA, NAGA, NEU1

Optic nerve atrophy

ACO2, ANTXR1, ATP1A3, C12orf65, CISD2, FA2H, MFN2, MT-ND1, MT-ND4, MT-ND6, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SPG7, TIMM8A, TMEM126A, UCHL1, WFS1

Orofaciodigital syndrome (OFD)

C2CD3, C5orf42, DDX59, OFD1, SCLT1, TCTN3, TMEM107, TMEM231, KIAA0753, TBC1D32

Osteogenesis imperfecta

BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LRP5, P3H1, PPIB, SERPINH1, TMEM38B, WNT1, ALPL, CREB3L1, P4HB, PLOD2, PLS3, SEC24D, SERPINF1, SP7, SPARC

close

P

Pancreatic carcinoma

BRCA1, BRCA2, CDKN2A, PALB2, PALLD, STK11, TP53, APC, ATM, CFTR, MLH1, MSH2, MSH6, PRSS1, SPINK1

Pancreatitis, chronic

Upon request

Parkinson’s disease

Upon request

Pena-Shokeir syndrome

CHRNA1, CHRND, CHRNG, CNTN1, DNM2, DOK7, ERBB3, GLE1, MUSK, MYBPC1, PIP5K1C, RAPSN, ADCY6, ADGRG6, CNTNAP1, ZBTB42

Pendred syndrome

FOXI1, KCNJ10, SLC26A4

Peripheral T-cell lymphoma

DNMT3A, IDH2, RHOA, TET2

Peroxisome biogenesis disorders

PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7

Perrault syndrome

CLPP, HARS2, HSD17B4, LARS2

Polycystic kidney diseases (ADPKD/ARPKD)

PKD1, PKD2, PKHD1

Polycystic kidney disease

PKD1, PKD2, PKHD1, ANKS6, BICC1, HNF1B, INVS, LRP5, NPHP3, UMOD

Polycystic liver diseases (PCLD)

LRP5, PRKCSH, SEC63

Polymicrogyria

Upon request

Polyneuropathy

ABCB7, ABCD1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, BSCL2, C12orf65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GCH1, GFAP, GJC2, GLB1, HSPD1, KIAA0196, KIF1A, KIF5A, L1CAM, MTPAP, NDUFV1, NIPA1, OPA1, OPA3, PLP1, PNPLA6, REEP1, RPIA, RTN2, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, SPP1, SPR, TECPR2, TH, VAMP1, VPS37A, ZFYVE26, ZFYVE27

Polyposis

APC, MUTYH

Pontocerebellar hypoplasia

Upon request

Porphyrias

Upon request

Primary ciliary dyskinesia (PCD)

DNAH11, DNAH5, ARMC4, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAI1, DNAI2, DNAL1, DRC1, DYX1C1, GAS8, HYDIN, LRRC6, NME8, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

Progeria syndrome

Upon request

Progressive familial intrahepatic cholestasis (PFIC)

ABCB11, ABCB4, ATP8B1, TJP2

Progressive external ophthalmoplegia (PEO)

ACADS, C10orf2, DNA2, MGME1, OPA1, POLG, POLG2, RRM2B, SLC25A4, SPG7, TK2, TYMP

Progressive myoclonic epilepsy

EPM2A, FOLR1, GLDC, GOSR2, KCTD7, NEU1, NHLRC1, PRICKLE1, PRICKLE2, SCARB2

Prostate carcinoma

AR, BRCA1, BRCA2, CDH1, ELAC2, HOXB13, MRC1, MSR1, NBN, CD82, CHEK2, MSMB, MXI1, RNASEL, ZFHX3

Pseudohypoaldosteronism

CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4,

Pulmonary hypertension

ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNK3, SMAD4, SMAD9, TBX4

Pyruvate dehydrogenase deficiency

Upon request

close

R

Rasopathies

Upon request

Refsum syndrome

PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH

Renal agnesia

See CAKUT

Renal carcinoma

BAP1, EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, WT1, MLH1, MSH2, MSH6, PMS2, SMARCB1, TP53, TSC1, TSC2

Renal hypoplasia/dysplasia

See CAKUT

Renal tubular acidosis (RTA)

ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4

Renal tubular dysgenesis (RTD)

ACE, AGT, AGTR1, REN

Retinitis pigmentosa, autosomal-dominant

IMPDH1, KLHL7, NRL, PRPF6, PRPF8, PRPF31, PRPH2, RHO, SNRNP200, TOPORS, BEST1, CA4, CAPN5, CRX, CTNNA1, GUCA1B, HK1, ITM2B, KIF5A, MIR204, NR2E3, OR2W3, PRPF3, PRPF4, RDH12, ROM1, RP1, RPE65, SEMA4A, SPP2, TEAD1

Retinal detachment

CAPN5, CHM, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, EFEMP1, FBN1, FZD4, KCNJ13, LRP5, NDP, P3H2, PLA2G5, RDH5, RLBP1, RS1, TSPAN12, TUBGCP4, VCAN, VPS13B, ZNF408

Retinitis pigmentosa, autosomal-recessive

CRB1, EYS, IMPG2, RP1, TULP1, ABCA4, ABHD12, ACACB, ADGRA3, ADIPOR1, AGBL5, ARL2BP, ARL6, ASRGL1, BBS2, BBS4, BEST1, C2orf71, C8orf37, CC2D2A, CDH16, CERKL, CLRN1, CNGA1, CNGB1, CYP4V2, DHDDS, DHX38, DNAJC17, EMC1, FAM161A, FLVCR1, GNPTG, GNS, GRID2, HGSNAT, IDH3B, IFT140, IFT172, IMPG1, KIAA1549, KIZ, LAMA1, LRAT, MAK, MERTK, MFSD8, MPDZ, MTTP, MVK, NEK2, NEUROD1, NRL, NR2E3, PDE6A, PDE6B, PDE6G, PLA2G5, PNPLA6, PRCD, PROM1, PRPF31, PRPH2, RBP3, RBP4, RDH11, RDH12, RDH5, RGR, RHBDD2, RHO, RLBP1, RPE65, SAG, RPGRIP1, SLC7A14, SPATA7, TRNT1, TTC8, TTPA, TUB, USH1C, USH2A, WDR19, ZNF408, ZNF513

Retinitis pigmentosa, syndromic

ABHD12, CC2D2A, CEP164, CEP19, COL9A1, ERCC6, EVC, EVC2, GNPTG, IFT140, INVS, IQCB1, KIF11, MFSD8, NPHP3, OAT, PANK2, PHYH, PLK4, POC1A, RB1, RDH11, TUBGCP6, WDR19, XPNPEP3

Retinitis pigmentosa, X-linked

CHM, OFD1, PGK1, RP2, RPGR

Retinoblastoma

RB1

close

S

Salt loss syndrome

Upon request

SANDD syndrome

CACNA1D

Schizencephaly

Upon request

Seckel syndrome

Upon request

Senior-Loken syndrome

CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, WDR19

Sensenbrenner syndrome

DPH1, IFT122, IFT43, WDR19, WDR35

Sex development, disorders

AKR1C2, AKR1C4, AMH, AMHR2, AR, BMP15, CBX2, CLPP, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP21A2, DHH, DIAPH2, DMRT1, DMRT2, EIF4ENIF1, FIGLA, FOXL2, FSHB, FSHR, GATA4, GDF9, HARS2, HFM1, HHAT, HNF1B, HOXA13, HOXA7, HSD17B3, HSD17B4, HSD3B2, KLHL4, LARS2, LHCGR, LHX1, MAMLD1, MAP3K1, MCM9, NOBOX, NR0B1, NR5A1, PAX2, POF1B, POR, PSMC3IP, RSPO1, SF1, SOX3, SOX9, SRD5A2, SRY, STAG3, STAR, SYCE1, TBX6, WNT4, WNT9B, WT1, ZFPM2

Sex development, disorders XX

CLPP, CYP11A1, CYP21A2, FSHR, HARS2, HNF1B, HSD17B4, LARS2, LHCGR, LHX1, NR5A1, POR, PSMC3IP, RSPO1, SOX3, SOX9, SRY, WNT4, AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, BMP15, CBX2, CHD7, CYB5A, CYP11B1, CYP17A1, DHH, DIAPH2, DMRT1, DMRT2, EIF4ENIF1, FGF8, FGFR1, FIGLA, FOXL2, FSHB, GATA4, GDF9, GNRH1, GNRHR, HFM1, HHAT, HOXA13, HOXA7, HS6ST1, HSD17B3, HSD3B2, KISS1, KISS1R, KLHL4, MAMLD1, MAP3K1, MCM9, NOBOX, NR0B1, NSMF, PAX2, POF1B, PROK2, PROKR2, SEMA3A, SF1, SRD5A2, STAG3, STAR, SYCE1, TAC3, TACR3, TBX6, WDR11, WNT9B, WT1, ZFPM2

Sex development, disorders XY

AMH, AMHR2, AR, CYP11A1, CYP17A1, DHH, DMRT1, HSD17B3, MAP3K1, NR0B1, NR5A1, SOX9, SRD5A2, SRY, WNT4, WT1, AKR1C2, AKR1C4, ANOS1, BMP15, CBX2, CHD7, CLPP, CYB5A, CYP11B1, CYP21A2, DIAPH2, DMRT2, EIF4ENIF1, FGF8, FGFR1, FIGLA, FOXL2, FSHB, FSHR, GATA4, GDF9, GNRH1, GNRHR, HARS2, HFM1, HHAT, HNF1B, HOXA13, HOXA7, HS6ST1, HSD17B4, HSD3B2, KISS1, KISS1R, KLHL4, LARS2, LHCGR, LHX1, MAMLD1, MCM9, NOBOX, NSMF, PAX2, POF1B, POR, PROK2, PROKR2, PSMC3IP, RSPO1, SEMA3A, SF1, SOX3, STAG3, STAR, SYCE1, TAC3, TACR3, TBX6, WDR11, WNT9B, ZFPM2

Short rib polydactyly syndrome

DYNC2H1, IFT140, IFT80, NEK1, WDR34, WDR35, CEP120, DPH1, DYNC2LI1, EVC, EVC2, IFT122, IFT172, IFT43, KIAA0586, TTC21B, WDR19, WDR60

Skeletal dysplasia with abnormal bone density/mineralisation

Upon request

Spastic paraplegia

ATL1, CYP7B1, KIF5A, NIPA1, REEP1, SPAST, SPG11, SPG7, ZFYVE26, ABCB7, ABCD1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, BSCL2, C12orf65, CYP2U1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GCH1, GFAP, GJC2, GLB1, HSPD1, KIAA0196, KIF1A, L1CAM, MTPAP, NDUFV1, OPA1, OPA3, PLP1, PNPLA6, RPIA, RTN2, SLC16A2, SLC33A1, SPG20, SPG21, SPP1, SPR, TECPR2, TH, VAMP1, VPS37A, ZFYVE27

Spinal muscle atrophy, distal

AR, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SETX, SMN1, UBA1, VAPB, VRK1

Spinocerebellar ataxia

ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATN1, ATXN8OS, C10orf2, CACNA1A, CYP27A1, DARS2, DNMT1, EXOSC3, FGF14, FLVCR1, FXN, GALC, ITPR1, KCNA1, KCNC3, KCND3, MRE11A, MTPAP, PDYN, PEX10, PLA2G6, PLEKHG4, PMM2, PRKCG, RARS2, RNF170, SACS, SETX, SIL1, SPR, SPTBN2, SYNE1, TDP1, TGM6, TSEN2, TSEN34, TSEN54, TTBK2, TTPA, VRK1

Splenic marginal zone lymphoma

ARID1A, KLF2, KMT2D, NOTCH2, TP53

Spondylometaphyseal and spondyloepiphyseal dysplasia

Upon request

Stargardt disease

ABCA4, ELOVL4, IMPG1, PROM1

Stickler syndrome

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

close

T

Thrombotic microangiopathy (TMA)

See aHUS

Thrombotic-thrombocytopenic purpura (TTP)

See aHUS

Treacher Collins syndrome

POLR1C, POLR1D, TCOF1

Tuberous sclerosis (TSC)

TSC1, TSC2

Tubulopathies

Upon request

close

U

Usher syndrome

CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G, ADGRV1, CEP250, CLRN1, COL9A1, HARS, HARS2, PDZD7, USH2A, WHRN

Usher syndrome type 1

CDH23, MYO7A, PCDH15, CIB2, USH1C, USH1G

Usher syndrome type 2

ADGRV1, USH2A, WHRN

close

V

Vasculopathy

ACVRL1, COL4A1, EFEMP2, ENG, FLNA, GDF2, NOTCH1, PKD1, SLC2A10, SMAD4

close

W

Waardenburg syndrome

EDN3, EDNRB, MITF, PAX3, SMOC1, SNAI2, SOX10

Waldenström’s disease

ARID1A, CXCR4, KMT2D, MYD88

Walker-Warburg syndrome

B3GALNT2, B4GAT1, COL4A1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5

Warburg-Micro syndrome

Upon request

close

X

Xanthinuria

MOCOS, XDH

X-linked intellectual impairment

Upon request

Xeroderma pigmentosum

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

close

Z

Zellweger syndrome

See peroxisome biogenesis disorders

close