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 AARS gene AARS Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2N, 613287 27159321;25527826;28334938;20301621;24357685;37106376;31775912;35911843 False 3 40;60;0 6.10 False ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, with ovarian failure, 615889 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCD1 gene ABCD1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, OMIM:300100 27159321;25527826;28334938;20301621;24357685 False 3 67;33;0 6.10 False ENSG00000101986 ENSG00000101986 HGNC:61 ALDH3A2 gene ALDH3A2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000072210 ENSG00000072210 HGNC:403 APP gene APP Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714 11113220;11409420;23931937;32342327 False 3 100;0;0 6.10 False ENSG00000142192 ENSG00000142192 HGNC:620 ARSA gene ARSA Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 250100 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000100299 ENSG00000100299 HGNC:713 AUH gene AUH Expert list;Expert Review Green Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, OMIM:250950 20855850;17130438 False 3 100;0;0 6.10 False ENSG00000148090 ENSG00000148090 HGNC:890 CLCN2 gene CLCN2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000114859 ENSG00000114859 HGNC:2020 COL4A1 gene COL4A1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773;Brain small vessel disease with or without ocular anomalies, 175780 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain small vessel disease 2, OMIM:614483 27159321;25527826;28334938;20301621;24357685;35699195;27624120;24390199 False 3 40;40;20 6.10 False ENSG00000134871 ENSG00000134871 HGNC:2203 CSF1R gene CSF1R Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000182578 ENSG00000182578 HGNC:2433 CST3 gene CST3 Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted leukodystrophy, MONDO:0019046;Cerebral amyloid angiopathy, OMIM:105150;ACys amyloidosis, MONDO:0007098 2900981;3495457;1352269;3673496;7482672;8108423;38489591;38729262 False 3 67;33;0 6.10 False ENSG00000101439 ENSG00000101439 HGNC:2475 CTSA gene CTSA Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Galactosialidosis, 256540 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000064601 ENSG00000064601 HGNC:9251 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000135929 ENSG00000135929 HGNC:2605 DARS gene DARS Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000117593 ENSG00000117593 HGNC:25538 EIF2B1 gene EIF2B1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000145191 ENSG00000145191 HGNC:3261 EPRS gene EPRS Expert list;Expert Review Green Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 15, OMIM:617951 29576217;33805425 False 3 100;0;0 6.10 False ENSG00000136628 ENSG00000136628 HGNC:3418 GALC gene GALC Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000054983 ENSG00000054983 HGNC:4115 GBE1 gene GBE1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, OMIM:263570 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutaricaciduria, type I, OMIM:231670;glutaryl-CoA dehydrogenase deficiency, MONDO:0009281 15985591;12473778 False 3 67;33;0 6.10 False ENSG00000105607 ENSG00000105607 HGNC:4189 GFAP gene GFAP Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, 203450 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000131095 ENSG00000131095 HGNC:4235 GJA1 gene GJA1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804, 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, Fabry disease, cardiac variant, 301500 27159321;25527826;28334938;20301621;24357685 False 3 60;40;0 6.10 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal white matter abnormality 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000170266 ENSG00000170266 HGNC:4298 GSN gene GSN Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, OMIM:105120;Finnish type amyloidosis, MONDO:0007097 25097823;7550233;33973672;33499149 False 3 100;0;0 6.10 False ENSG00000148180 ENSG00000148180 HGNC:4620 HEPACAM gene HEPACAM Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000165478 ENSG00000165478 HGNC:26361 HEXA gene HEXA Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000213614 ENSG00000213614 HGNC:4878 HTRA1 gene HTRA1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CARASIL syndrome, 600142;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000166033 ENSG00000166033 HGNC:9476 ITM2B gene ITM2B Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, familial British, OMIM:176500;ABri amyloidosis, MONDO:0008306;Dementia, familial Danish, OMIM:117300;ADan amyloidosis, MONDO:0007297 29525180;10391242;10781099 False 3 100;0;0 6.10 False ENSG00000136156 ENSG00000136156 HGNC:6174 L2HGDH gene L2HGDH Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMB1 gene LAMB1 Expert Review Green;Literature;NHS GMS Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lissencephaly 5, OMIM:615191;cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 32548278;34606115;23472759;25925986;29888467 False 3 100;0;0 6.10 False ENSG00000091136 ENSG00000091136 HGNC:6486 LARS2 gene LARS2 Expert list;Expert Review Green Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021;Leukodystrophy 32442335;30737337;32423379 False 3 100;0;0 6.10 False ENSG00000011376 ENSG00000011376 HGNC:17095 LIG3 gene LIG3 Expert Review Green;Literature Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 3 100;0;0 6.10 False ENSG00000005156 ENSG00000005156 HGNC:6600 LMNB1 gene LMNB1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000113368 ENSG00000113368 HGNC:6637 MCOLN1 gene MCOLN1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, 252650 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000090674 ENSG00000090674 HGNC:13356 MTHFR gene MTHFR Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, 236250 29391032 False 3 50;50;0 6.10 False ENSG00000177000 ENSG00000177000 HGNC:7436 NOTCH3 gene NOTCH3 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310;neurodevelopmental disorder, MONDO:0700092;leukodystrophy, MONDO:0019046 27159321;25527826;28334938;20301621;24357685;39191170 False 3 60;40;0 6.10 False ENSG00000074181 ENSG00000074181 HGNC:7883 PAH gene PAH Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000171759 ENSG00000171759 HGNC:8582 PEX1 gene PEX1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6B, 614871 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 14B, 614920 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A, 614859;Peroxisome biogenesis disorder 3B, 266510 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger), 614883;Peroxisome biogenesis disorder 11B, 614885 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), 614887 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger), 614876;Peroxisome biogenesis disorder 8B, 614877 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), 614886 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) 614866;Peroxisome biogenesis disorder 5B, 614867 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7B, 614873;Peroxisome biogenesis disorder 7A (Zellweger), 614872 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 10B, 617370;Peroxisome biogenesis disorder 10A (Zellweger), 614882 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2B, 202370;Peroxisome biogenesis disorder 2A (Zellweger), 214110 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4B, 614863;Peroxisome biogenesis disorder 4A (Zellweger), 614862 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, 614879 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000112357 ENSG00000112357 HGNC:8860 PLP1 gene PLP1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease, 312080 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000123560 ENSG00000123560 HGNC:9086 POLR3A gene POLR3A Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000013503 ENSG00000013503 HGNC:30348 PRNP gene PRNP Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral amyloid angiopathy, PRNP-related, OMIM:137440;Gerstmann-Straussler disease, OMIM:137440;Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656 False 3 100;0;0 6.10 False ENSG00000171867 ENSG00000171867 HGNC:9449 PSAP gene PSAP Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, atypical, 611722;Metachromatic leukodystrophy due to SAP-b deficiency, 249900 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSEN1 gene PSEN1 Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alzheimer disease, type 3, OMIM:607822;Alzheimer disease 3, MONDO:0011913;Dementia, frontotemporal, OMIM:600274;semantic dementia, MONDO:0010857 34319632;26888304;11489138;11395394 False 3 100;0;0 6.10 False ENSG00000080815 ENSG00000080815 HGNC:9508 PTEN gene PTEN Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000171862 ENSG00000171862 HGNC:9588 RNASEH2A gene RNASEH2A Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNF216 gene RNF216 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 27159321;25527826;28334938;20301621;24357685;26250479;25841028;38050071 False 3 33;67;0 6.10 False ENSG00000011275 ENSG00000011275 HGNC:21698 SAMHD1 gene SAMHD1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000101347 ENSG00000101347 HGNC:15925 SNORD118 gene SNORD118 Expert list;Expert Review Green Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, 614561 27571260 False 3 100;0;0 6.10 False ENSG00000200463 ENSG00000200463 HGNC:32952 SPG11 gene SPG11 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2X, 616668 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mast syndrome, MIM# 248900 14564668 False 3 100;0;0 6.10 False ENSG00000090487 ENSG00000090487 HGNC:20373 TREM2 gene TREM2 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Vasculopathy, retinal, with cerebral leukodystrophy, 192315;Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000213689 ENSG00000213689 HGNC:12269 TTR gene TTR Expert list;Expert Review Green;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, hereditary, transthyretin-related, OMIM:105210;familial amyloid neuropathy, MONDO:0007100 25802113;31257920;27466465;34663645;28991667;35040071;29779881;34390072 False 3 100;0;0 6.10 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBB4A gene TUBB4A Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000104833 ENSG00000104833 HGNC:20774 TYMP gene TYMP Expert list;Expert Review Green Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041;Leukoencephalopathy 9924029;12177387;14757860;16178026 False 3 100;0;0 6.10 False ENSG00000025708 ENSG00000025708 HGNC:3148 TYROBP gene TYROBP Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000011600 ENSG00000011600 HGNC:12449 ZFYVE26 gene ZFYVE26 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, 270700 27159321;25527826;28334938;20301621;24357685 False 3 50;50;0 6.10 False ENSG00000072121 ENSG00000072121 HGNC:20761 ANXA11 gene ANXA11 Expert Review Amber;Literature Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, OMIM:619733;inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 34048612 False 2 0;100;0 6.10 False ENSG00000122359 ENSG00000122359 HGNC:535 CTC1 gene CTC1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 27159321;25527826;28334938;20301621;24357685l22267198;22387016;22532422 False 2 40;60;0 6.10 False ENSG00000178971 ENSG00000178971 HGNC:26169 EARS2 gene EARS2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924 27159321;25527826;28334938;20301621;24357685 False 2 40;40;20 6.10 False ENSG00000103356 ENSG00000103356 HGNC:29419 HMGCL gene HMGCL Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, OMIM:246450;3-hydroxy-3-methylglutaric aciduria, MONDO:0009520 27159321;25527826;28334938;20301621;24357685;28583327 False 2 29;57;14 6.10 False ENSG00000117305 ENSG00000117305 HGNC:5005 KIF5A gene KIF5A Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia 27159321;25527826;28334938;20301621;24357685 False 2 25;75;0 6.10 False ENSG00000155980 ENSG00000155980 HGNC:6323 MAL gene MAL Expert Review Amber;Literature Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;nystagmus;progressive motor deterioration;dysmyelination 35217805 False 2 0;100;0 6.10 False ENSG00000172005 ENSG00000172005 HGNC:6817 MARS gene MARS Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2U, 616280 27159321;25527826;28334938;20301621;24357685 False 2 33;50;17 6.10 False ENSG00000166986 ENSG00000166986 HGNC:6898 NPC1 gene NPC1 Expert list;Expert Review Amber Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1/D 257220 26910362;27900365;29406968;31254056 False 2 50;50;0 6.10 False ENSG00000141458 ENSG00000141458 HGNC:7897 OCRL gene OCRL Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, OMIM:309000 27159321;25527826;28334938;20301621;24357685;33517444;16722554 False 2 29;57;14 6.10 False ENSG00000122126 ENSG00000122126 HGNC:8108 POLR1C gene POLR1C Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 11 27159321;25527826;28334938;20301621;24357685 False 2 33;67;0 6.10 False ENSG00000171453 ENSG00000171453 HGNC:20194 PSEN2 gene PSEN2 Expert list;Expert Review Amber;NHS GMS Adult onset leukodystrophy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alzheimer disease-4, OMIM:606889;Alzheimer disease 4, MONDO:0011743 9450781;10631141;14681895;18427071 False 2 0;100;0 6.10 False ENSG00000143801 ENSG00000143801 HGNC:9509 RNASET2 gene RNASET2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly, 612951 27159321;25527826;28334938;20301621;24357685 False 2 33;50;17 6.10 False ENSG00000026297 ENSG00000026297 HGNC:21686 TPP2 gene TPP2 Expert Review Amber;Literature Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal White matter abnormalities;Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 33586135;25414442;25525876;30533531 False 2 100;0;0 6.10 False ENSG00000134900 ENSG00000134900 HGNC:12016 ADAR gene ADAR Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 27159321;25527826;28334938;20301621;24357685 False 1 40;40;20 6.10 False ENSG00000160710 ENSG00000160710 HGNC:225 ASPA gene ASPA Expert list;Expert Review Red Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Canavan disease, OMIM:271900 Canavan disease, MIM# 271900 False 1 100;0;0 6.10 False ENSG00000108381 ENSG00000108381 HGNC:756 CYP7B1 gene CYP7B1 Expert list;Expert Review Red Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive , OMIM:270800 19187859;19439420;24117163 False 1 50;50;0 6.10 False ENSG00000172817 ENSG00000172817 HGNC:2652 MAN2B1 gene MAN2B1 Expert list;Expert Review Red Adult onset leukodystrophy Neurology BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, OMIM:248500 15534274;26212233;33317989 False 1 50;0;50 6.10 False ENSG00000104774 ENSG00000104774 HGNC:6826 RPS6KA3 gene RPS6KA3 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset leukodystrophy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry syndrome, OMIM:303600 27159321;25527826;28334938;20301621;24357685 False 1 29;29;43 6.10 False ENSG00000177189 ENSG00000177189 HGNC:10432