ABCB7 ABHD12 ADCK3 ADCY5 AFG3L2 AHI1 ALAS2 ALG6 AMACR ANO10 ANO3 APTX ARL13B ARSA ATCAY ATM ATP1A3 ATP7A ATP7B ATP8A2 AUH BCAP31 BTD C10orf2 CA8 CACNA1A CACNA1B CACNB4 CBS CC2D2A CCDC88C CD320 CEP290 CIZ1 CLCN2 CLN3 CLN5 COL6A3 COX20 CP CSF1R CSTB CYP27A1 DARS2 DDB2 DLAT DNAJC19 DNAJC5 DNMT1 EEF2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELOVL4 ELOVL5 EPM2A ERCC2 ERCC3 ERCC4 ERCC5 FGF14 FLVCR1 FTL FXN GALC GBA GBA2 GBE1 GCDH GCH1 GCLC GJB1 GLB1 GNAL GOSR2 GRID2 HCFC1 HEPACAM HEXA HEXB HPRT1 HTT IFRD1 INPP5E ITPR1 JPH3 KCNA1 KCNC3 KCND3 KCNJ10 KCNMA1 KCTD17 RUBCN KIF1C KIF5C L2HGDH MECP2 MLC1 MRE11A MTPAP MTTP NEU1 NHLRC1 NKX2-1 NOP56 NPC1 NPC2 NPHP1 OPA1 OPA3 PANK2 PARK2 PAX6 PCCA PCCB PDHX PDSS1 PDSS2 PDYN PEX10 PEX2 PEX7 PHYH PIK3R5 PLA2G6 PMM2 PNKD PNKD PNPLA6 POLG POLH PRICKLE1 PRKCG PRKRA PRNP PRRT2 PSAP RARS2 RELN RPGRIP1L SACS SETX SGCE SIL1 SLC17A5 SLC1A3 SLC20A2 SLC25A15 SLC2A1 SLC30A10 SLC5A2 SLC6A3 SMPD1 SPG7 SPR SPTBN2 STUB1 SYNE1 SYT14 TAF1 TDP1 TGM6 TH THAP1 TIMM8A TMEM216 TMEM67 TOR1A TSEN2 TSEN34 TSEN54 TTBK2 TTPA TUBB4A VAMP1 VLDLR VPS13A VRK1 WFS1 WWOX XPA XPC ZNF592