Why Genetics?

Inborn errors of metabolism including amino acid disorders (PKU, maple syrup urine disease), organic acidemias, fatty acid oxidation disorders, urea cycle disorders, glycogen storage diseases, lysosomal storage disorders, and peroxisomal disorders.

AAAS, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AKR1D1, ALDH3A2, ALDH4A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG3, ALG6, ALOX12B, ALOXE3, ALPL, AMN, AMT, ANTXR2, ARG1, ARSA, ARSB, ARSE, ASL, ASNS, ASPA, ASS1, ATM, ATP7A, ATP7B, ATP8B1, BCHE, BCKDHA, BCKDHB, BCS1L, BTD, CANT1, CBS, COQ4, COX10, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT2, CRADD, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYBA, CYBB, DBT, DDC, DGUOK, DHCR24, DHCR7, DHDDS, DLAT, DLD, DPYD, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAH, FBXL4, FBP1, FH, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FXN, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATM, GBA, GBE1, GCDH, GDAP1, GFPT1, GLA, GLB1, GLDC, GNE, GNS, GRHPR, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAX1, HCFC1, HEXA, HEXB, HGD, HGSNAT, HINT1, HLCS, HMGCL, HMGCS2, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HYAL1, IDH3B, IDS, IDUA, ITPA, IVD, LIPA, LIPN, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MTHFD1, MTHFR, MTR, MTRR, MTTP, MUT, MVK, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OAT, OTC, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PEPD, PET100, PFKM, PGK1, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PMM2, PNP, PNPO, PPT1, PRPS1, PSAP, PTS, PYGL, PYGM, QDPR, RTEL1, SACS, SAMD9, SAMHD1, SARS2, SBDS, SCO1, SCO2, SERPINA1, SGSH, SLC12A1, SLC12A3, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC27A4, SLC34A3, SLC35A3, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC46A1, SLC4A1, SLC5A5, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPR, SUCLA2, SUMF1, SUOX, SURF1, TAT, TERT, TF, TFR2, TG, TGM1, TH, TK2, TPP1, TTPA, TYMP, TYR, TYRP1, UGT1A1

Hemoglobinopathies (sickle cell disease, thalassemias), bleeding disorders (hemophilia, von Willebrand disease), platelet disorders, iron metabolism disorders, and other hematological conditions.

EPB42, F11, F2, F5, F7, F8, F9, GP1BA, GP9, HAMP, HBA1, HBA2, HBB, HFE, HJV, ITGA2B, ITGA6, ITGB3, ITGB4, MPL, NBEAL2, NBN, NCF2, NCF4, RHAG, SEC23B, CDAN1, PGM3

Muscular dystrophies (Duchenne, Becker, limb-girdle), congenital myopathies, spinal muscular atrophy, myasthenic syndromes, and neuromuscular junction disorders.

CAPN3, CASP14, CHAT, CHRNE, CHRNG, CLCN1, COLQ, DMD, DOK7, DYSF, FKBP10, FKRP, FKTN, FHL1, MTM1, MTMR2, NEB, PLEKHG5, POMGNT1, POMT1, POMT2, RAPSN, SELENON, SGCA, SGCB, SGCD, SGCG, SLC5A7, SMN1, TAZ, ESCO2

Hereditary hearing loss (non-syndromic and syndromic), Usher syndrome, retinitis pigmentosa, Leber congenital amaurosis, albinism, color blindness, and other vision/hearing disorders.

ABCA4, AIPL1, CDH23, CERKL, CHM, CHST6, CIB2, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CRYL1, EYS, FAM161A, GJB1, GJB2, GJB6, GPR143, GUCY2D, LHCGR, LOXHD1, LRAT, MAK, MYO7A, NDP, NR2E3, OCA2, OPA3, OTOF, PCDH15, PDE6A, PJVK, PRCD, PRDM5, RD3, RDH12, RDH5, RLBP1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, TMPRSS3, USH1C, USH1G, USH2A, WHRN, SLC26A4, CRB1

Intellectual disability, autism spectrum disorders, epilepsy, leukodystrophies, spastic paraplegias, ataxias, and other neurological conditions affecting brain development and function.

ADGRG1, ADGRV1, AFF2, AHI1, AIMP1, AIRE, ARX, ATRX, BLM, BRWD3, CC2D1A, CC2D2A, CDCA7, CLP1, CNTNAP2, CTC1, CUL4B, DCX, DLG3, DNMT3B, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, FGD1, FMR1, FTSJ1, HELLS, IGHMBP2, IL1RAPL1, INPP5E, KCTD7, KDM5C, L1CAM, LMNA, LPAR6, LRPPRC, MED17, MEFV, MEGF8, MID1, MLC1, MRE11, NDRG1, NHEJ1, NONO, OPHN1, PAK3, PHF8, PQBP1, PUS1, SH3TC2, SLC12A6, SLC1A4, SMARCAL1, SYN1, SYNE4, THOC2, UPF3B, VPS13A, VPS13B, ZDHHC9, ZNF469, ZNF711

Ehlers-Danlos syndromes, osteogenesis imperfecta, chondrodysplasias, epidermolysis bullosa, Alport syndrome, and other connective tissue and skeletal disorders.

ADAMTS2, ALMS1, BMPER, COL11A2, COL17A1, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CRTAP, CUL7, DDR2, DLL3, EDA, EFEMP2, EVC, EVC2, GDF5, GRIP1, KIF14, LAMA2, LAMA3, LAMB3, LAMC2, LARS, LTBP4, MESP2, OBSL1, P3H1, PLOD1, PLOD2, PLP1, PRICKLE1, SERPINF1, TNXB, WISP3, WNT1, WNT10A

Severe combined immunodeficiency (SCID), X-linked agammaglobulinemia, chronic granulomatous disease, Wiskott-Aldrich syndrome, and other primary immunodeficiency disorders.

AK2, BTK, CD247, CD3D, CD3E, CD3G, CD40LG, CD59, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, FOXP3, IKBKB, IL2RA, IL2RG, IL7R, JAK3, LCK, LIG4, MALT1, NDUFA11, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, PRF1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, SNX10, SP110, STK4, STX11, STXBP2, UNC13D, WAS, ZAP70

Polycystic kidney disease, nephrotic syndrome, renal tubular acidosis, Dent disease, Bartter syndrome, Gitelman syndrome, and other kidney disorders.

AGPAT2, AQP2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, AVPR2, CLCN5, CLCNKB, GNPAT, GNPTAB, GNPTG, INVS, KCNJ1, KCNJ11, LMAN1, LMBRD1, NPHP1, NPHP3, NPHS1, NPHS2, OCRL, PKHD1, SLC4A11, VDR, VLDLR

Congenital adrenal hyperplasia, disorders of sex development, congenital hypothyroidism, growth hormone deficiency, and other endocrine disorders.

AMH, AMHR2, AR, CASR, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DUOX2, DUOXA2, GHR, GHRHR, GNRHR, IYD, LHX3, LIFR, NR0B1, POU1F1, POU3F4, PROP1, SRD5A2, ST3GAL5, STAR, TBX19, TCIRG1, TPO, TRHR, TSHB, TSHR

Bardet-Biedl syndrome, Joubert syndrome, Meckel syndrome, nephronophthisis, primary ciliary dyskinesia, and other ciliopathy disorders.

B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BSND, CASQ2, CCDC103, CCDC151, CCDC39, CCDC8, CCDC88C, CEP104, CEP152, CEP290, MKKS, MKS1, RSPH9, SDCCAG8, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, HYLS1, SPATA7, RAB23, IFT140, TRAPPC11

Fanconi anemia, xeroderma pigmentosum, Bloom syndrome, ataxia-telangiectasia, and other DNA repair disorders that predispose to cancer.

ATM, BLM, BRIP1, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, LYST, MRE11, NBN, POLG, POLH, POLR1C, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, WRN, XPA, XPC, ZBTB24

Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and other peroxisome biogenesis disorders.

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

Various rare genetic disorders including mitochondrial disorders, neuronal ceroid lipofuscinoses, spastic paraplegias, and other miscellaneous genetic conditions.

ADK, ANO10, ANO5, AP1S1, AP1S2, AP3B1, AP3D1, APOPT1, ARL13B, ARL6, BLOC1S3, BLOC1S6, BMP1, C19orf12, C8orf37, CAD, CAVIN1, CHMP1A, CLCF1, CLN3, CLN5, CLN6, CLN8, COASY, CPLANE1, CRLF1, DCAF17, DDX11, DOLK, DTNBP1, EXOSC3, FRAS1, FREM2, GORAB, LDLR, LDLRAP1, LPL, LRP2, MANBA, MAN2B1, MCPH1, MFSD8, NIPAL4, NTRK1, OSTM1, PIP5K1C, PIGN, PLA2G6, PNPLA1, POC1A, PPIB, RMRP, ROGDI, SDR9C7, SELENON, SEPSECS, SGP11, SGP21, SGP7, SKIV2L, SLC2A10, SLC2A2, SNAP29, SPG11, SPG21, SPG7, SPINK5, TBCE, TECPR2, TNFSF11, TRDN, TRIM32, TRIM37, TRMU, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TTC37, TTC7A, TTC8, TULP1, VPS45, VPS53, VRK1, VSX2, AMPD2, ERBB3