Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS2 gene AARS2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCD1 gene ABCD1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000101986 ENSG00000101986 HGNC:61 ACBD5 gene ACBD5 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACOX1 gene ACOX1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000161533 ENSG00000161533 HGNC:119 ADAR gene ADAR Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000160710 ENSG00000160710 HGNC:225 AIFM1 gene AIFM1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 28842795 False 3 0;0;0 0.4 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH3A2 gene ALDH3A2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000072210 ENSG00000072210 HGNC:403 ARSA gene ARSA Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000100299 ENSG00000100299 HGNC:713 ASPA gene ASPA Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000108381 ENSG00000108381 HGNC:756 ATP7A gene ATP7A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000123191 ENSG00000123191 HGNC:870 ATPAF2 gene ATPAF2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000171953 ENSG00000171953 HGNC:18802 BCAP31 gene BCAP31 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000163170 ENSG00000163170 HGNC:24415 CLCN2 gene CLCN2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000114859 ENSG00000114859 HGNC:2020 CNTNAP1 gene CNTNAP1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 28374019 False 3 0;0;0 0.4 False ENSG00000108797 ENSG00000108797 HGNC:8011 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000187498 ENSG00000187498 HGNC:2202 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ8A gene COQ8A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ9 gene COQ9 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000014919 ENSG00000014919 HGNC:2263 CSF1R gene CSF1R Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000182578 ENSG00000182578 HGNC:2433 CYP27A1 gene CYP27A1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000117593 ENSG00000117593 HGNC:25538 DGUOK gene DGUOK Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000114956 ENSG00000114956 HGNC:2858 EARS2 gene EARS2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000103356 ENSG00000103356 HGNC:29419 EIF2B1 gene EIF2B1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000145191 ENSG00000145191 HGNC:3261 ERCC2 gene ERCC2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000049167 ENSG00000049167 HGNC:3439 ETFDH gene ETFDH Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000171503 ENSG00000171503 HGNC:3483 FA2H gene FA2H Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAM126A gene FAM126A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000122591 ENSG00000122591 HGNC:24587 FOLR1 gene FOLR1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000110195 ENSG00000110195 HGNC:3791 FUCA1 gene FUCA1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000179163 ENSG00000179163 HGNC:4006 GALC gene GALC Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000054983 ENSG00000054983 HGNC:4115 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000114480 ENSG00000114480 HGNC:4180 GFAP gene GFAP Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000168827 ENSG00000168827 HGNC:13780 GJA1 gene GJA1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJC2 gene GJC2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000170266 ENSG00000170266 HGNC:4298 GTF2H5 gene GTF2H5 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000272047 ENSG00000272047 HGNC:21157 HEPACAM gene HEPACAM Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000165478 ENSG00000165478 HGNC:26361 HEXA gene HEXA Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000213614 ENSG00000213614 HGNC:4878 HMBS gene HMBS Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000256269 ENSG00000256269 HGNC:4982 HSD17B4 gene HSD17B4 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSPD1 gene HSPD1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA1 gene HTRA1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000166033 ENSG00000166033 HGNC:9476 IBA57 gene IBA57 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 27785568 False 3 0;0;0 0.4 False ENSG00000181873 ENSG00000181873 HGNC:27302 IFIH1 gene IFIH1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000115267 ENSG00000115267 HGNC:18873 ISCA2 gene ISCA2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 29297947 False 3 0;0;0 0.4 False ENSG00000165898 ENSG00000165898 HGNC:19857 KIF5A gene KIF5A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000155980 ENSG00000155980 HGNC:6323 L2HGDH gene L2HGDH Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000087299 ENSG00000087299 HGNC:20499 LMNB1 gene LMNB1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000113368 ENSG00000113368 HGNC:6637 MCOLN1 gene MCOLN1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000090674 ENSG00000090674 HGNC:13356 MLC1 gene MLC1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000100427 ENSG00000100427 HGNC:17082 MPLKIP gene MPLKIP Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000168303 ENSG00000168303 HGNC:16002 MRPS16 gene MRPS16 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000182180 ENSG00000182180 HGNC:14048 NAXE gene NAXE Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA2 gene NDUFA2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 28857146 False 3 0;0;0 0.4 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF1 gene NDUFAF1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFS1 gene NDUFS1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS4 gene NDUFS4 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000167792 ENSG00000167792 HGNC:7716 NKX6-2 gene NKX6-2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 28969374 False 3 0;0;0 0.4 False ENSG00000148826 ENSG00000148826 HGNC:19321 NOTCH3 gene NOTCH3 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000119655 ENSG00000119655 HGNC:14537 OCLN gene OCLN Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000122126 ENSG00000122126 HGNC:8108 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000124587 ENSG00000124587 HGNC:8859 PHGDH gene PHGDH Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000092621 ENSG00000092621 HGNC:8923 PLP1 gene PLP1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000123560 ENSG00000123560 HGNC:9086 POLG gene POLG Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLR1A gene POLR1A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 28051070 False 3 0;0;0 0.4 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1C gene POLR1C Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR3A gene POLR3A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000013503 ENSG00000013503 HGNC:30348 PPT1 gene PPT1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRF1 gene PRF1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000180644 ENSG00000180644 HGNC:9360 PSAP gene PSAP Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000135069 ENSG00000135069 HGNC:19129 PYCR2 gene PYCR2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 27130255 False 3 0;0;0 0.4 False ENSG00000143811 ENSG00000143811 HGNC:30262 RAB11B gene RAB11B Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000185236 ENSG00000185236 HGNC:9761 RARS gene RARS Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000113643 ENSG00000113643 HGNC:9870 RNASEH2A gene RNASEH2A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000026297 ENSG00000026297 HGNC:21686 RRM2B gene RRM2B Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000048392 ENSG00000048392 HGNC:17296 SAMHD1 gene SAMHD1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCO1 gene SCO1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000117118 ENSG00000117118 HGNC:10681 SLC13A5 gene SLC13A5 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC25A1 gene SLC25A1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A4 gene SLC25A4 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000151729 ENSG00000151729 HGNC:10990 SNORD118 gene SNORD118 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000200463 ENSG00000200463 HGNC:32952 SOX10 gene SOX10 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000100146 ENSG00000100146 HGNC:11190 SPART gene SPART Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPAST gene SPAST Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000197912 ENSG00000197912 HGNC:11237 STX11 gene STX11 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000076944 ENSG00000076944 HGNC:11445 SUCLA2 gene SUCLA2 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUMF1 gene SUMF1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000144455 ENSG00000144455 HGNC:20376 SURF1 gene SURF1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000136463 ENSG00000136463 HGNC:24316 TMEM106B gene TMEM106B Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 29186371 False 3 0;0;0 0.4 False ENSG00000106460 ENSG00000106460 HGNC:22407 TREX1 gene TREX1 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000213689 ENSG00000213689 HGNC:12269 TUBB4A gene TUBB4A Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUFM gene TUFM Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000178952 ENSG00000178952 HGNC:12420 TWNK gene TWNK Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000025708 ENSG00000025708 HGNC:3148 TYROBP gene TYROBP Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000011600 ENSG00000011600 HGNC:12449 UNC13D gene UNC13D Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000092929 ENSG00000092929 HGNC:23147 VPS11 gene VPS11 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services 27473128 False 3 0;0;0 0.4 False ENSG00000160695 ENSG00000160695 HGNC:14583 ZFYVE26 gene ZFYVE26 Expert Review Green;Victorian Clinical Genetics Services Leukodystrophy Victorian Clinical Genetics Services False 3 0;0;0 0.4 False ENSG00000072121 ENSG00000072121 HGNC:20761