Molekulargenetik

Ehlers-Danlos Syndrom, autosomal dominant

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

Ehlers-Danlos Syndrom, autosomal rezessiv / X-chromosomal

ADAMTS2, B3GALT6, B4GALT7, CHST14, FKBP14, FLNA, PLOD1, SLC39A13

Epiphysäre Dysplasie, rezessive multiple

SLC26A2

Enzephalopathie aufgrund mitochondrialer Defekte basierend auf Mutationen in nukleär-kodierten Genen (Leigh Syndrom), Basisdiagnostik

PDHA1, PDSS1, PDSS2, POLG, SCO2, SDHA, SLC19A3, SUCLA2, SUCLG1, SURF1, TRMU

Enzephalopathie aufgrund mitochondrialer Defekte basierend auf Mutationen in nukleär-kodierten Genen (Leigh Syndrom), erweiterte Diagnostik

AARS, C10orf2, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GFAP, GFER, GFM1, IBA57, LRPPRC, LYRM7, MARS2, MICU1, MPV17, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6. NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PANK2, PC, PDHB, PDHX, PDP1, PNPT1, PTCD1, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO1, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SLC19A2, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG7, STXBP1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM70, TPK1, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, YARS2

Epilepsie mit Therapierelevanz

ALDH7A1, ALG13, GRIN2A, KCNQ2, PNPO, PRRT2, SCN1A, SCN2A, SLC2A1

Epilepsie mit X-chromosomaler mentaler Retardierung, Basisdiagnostik

ARHGEF9, ARX, ATRX, CASK, CDKL5, GRIA3, MECP2, SLC9A6, SMS, SYN1

Epilepsie mit X-chromosomaler mentaler Retardierung, erweiterte Diagnostik

ALG13, ATP6AP2, CLCN4, CUL4B, FMR1, HSD17B10, IQSEC2, KDM5C, MED12, OFD1, OPHN1, PAK3, PCDH19, PGK1, PHF6, PIGA, PLP1, RAB39B, SRPX2, SYP, UBE2A, WDR45

Epileptische Enzephalopathie, Basisdiagnostik

ARX, CDKL5, KCNQ2, MECP2, PCDH19, SCN1A, SCN2A, SCN8A, STXBP1

Epileptische Enzephalopathie, erweiterte Diagnostik

AARS, ACY1, ADAR, ADSL, ALDH7A1, ALG13, AMACR, AMT, ARHGEF15, ARHGEF9, ASAH1, ATP13A2, ATP1A2, BRAT1, C10orf2/TWNK, C19orf12, CACNA1A, CASK, CHD2, CHD8, CLCN4, CLN3, CLN5, CLN6, CLP1, CNTNAP2, CP, CPT2, CSTB, DCAF17, DCX, DNM1, DOCK7, DPM2, DYRK1A, EARS2, EEF1A2, EFHC1, EIF2B3, EPM2A, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FARS2, FASN, FASTKD2, FBXL4, FLNA, FOLR1, FOXG1, FOXRED1, FTL, GABBR2, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GFAP, GFER, GFM1, GLDC, GLUL, GMPPB, GNAO1, GOSR2, GPHN, GPR98, GRIN1, GRIN2A, GRIN2B, HADH, HCN1, HCN2, HDAC4, HEXA, HEXB, HNRNPH1, HNRNPU, IBA57, IQSEC2, KCNA2, KCNB1, KCNC1, KCNH5, KCNQ3, KCNT1, KCTD7, LRPPRC, LYRM7, MARS2, MBD5, MEF2C, MICU1, MOCS1, MOCS2, MPV17, MRPS16, MRPS22, MTFMT, MTHFR, MTO1, MTOR, MTPAP, MYBPC1, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NFU1, NHLRC1, NIPA2, NPC1, NPC2, NRXN1, NUBPL, OPA1, PANK2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PHGDH, PIGA, PIK3AP1, PLA2G6, PLCB1, PLP1, PNKP, PNPO, PNPT1, POLG, POLR3A, POLR3B, PPT1, PPT2, PRICKLE1, PRICKLE2, PRRT2, PTCD1, PUS1, QARS, RANBP2, RANGAP1, RARS2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RRM2B, RYR3, SAMHD1, SARS2, SCARB2, SCN1B, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SEZ6, SGCE, SIK1, SLC13A5, SLC19A2, SLC19A3, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC35A2, SLC6A8, SLC9A6, SPG7, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TARS2, TAZ, TBC1D24, TCF4, TIMM8A, TK2, TMEM70, TNK2, TPK1, TPP1, TREX1, TRMU, TSC1, TSC2, TSFM, TTC19, TUBB2A, TUFM, TYMP, UBE3A, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, WWOX, YARS2, ZEB2

Eiigkeit (Zwillinge)

Episodische Ataxie

CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3