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;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 29, MIM#616339 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28493438;25817015 False 3 100;0;0 0.466 True ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, with ovarian failure, 615889 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCD1 gene ABCD1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Adrenoleukodystrophy, MIM# 300100" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000101986 ENSG00000101986 HGNC:61 ABCD1 gene ABCD1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000101986 ENSG00000101986 HGNC:61 ABHD16A gene ABHD16A Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM# 619735;Intellectual Disability;Corpus callosum abnormalities Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 34587489 False 3 100;0;0 0.466 True ENSG00000204427 ENSG00000204427 HGNC:13921 ACBD5 gene ACBD5 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 23105016;27799409 False 3 100;0;0 0.466 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACER3 gene ACER3 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 32816236;26792856;34281620 False 3 50;50;0 0.466 True ENSG00000078124 ENSG00000078124 HGNC:16066 ACOX1 gene ACOX1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470;Mitchell syndrome, MIM# 618960 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 True ENSG00000161533 ENSG00000161533 HGNC:119 ACTA2 gene ACTA2 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29300374 False 3 100;0;0 0.466 True Other ENSG00000107796 ENSG00000107796 HGNC:130 ACTA2 gene ACTA2 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29300374 False 3 100;0;0 0.466 True Other ENSG00000107796 ENSG00000107796 HGNC:130 ADAR gene ADAR Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, 615010 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000160710 ENSG00000160710 HGNC:225 ADAR gene ADAR Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 6, MIM# 615010" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000160710 ENSG00000160710 HGNC:225 AIFM1 gene AIFM1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28842795;27102849 False 3 100;0;0 0.466 True ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3 260600 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH3A2 gene ALDH3A2 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Sjogren-Larsson syndrome, MIM# 270200" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH3A2 gene ALDH3A2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, 270200 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000072210 ENSG00000072210 HGNC:403 AP4B1 gene AP4B1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 47, autosomal recessive MIM#614066" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29193663 False 3 100;0;0 0.466 True ENSG00000134262 ENSG00000134262 HGNC:572 APOPT1 gene APOPT1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM# 220110 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25175347 False 3 100;0;0 0.466 True ENSG00000256053 ENSG00000256053 HGNC:20492 APP gene APP Expert Review Green;Other Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted early-onset autosomal dominant Alzheimer disease MONDO:0015140 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 36845656 False 3 100;0;0 0.466 True ENSG00000142192 ENSG00000142192 HGNC:620 ARSA gene ARSA Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Metachromatic leukodystrophy, MIM# 250100" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSA gene ARSA Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 250100 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000100299 ENSG00000100299 HGNC:713 ASPA gene ASPA Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Canavan disease, MIM# 271900 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25655951 False 3 100;0;0 0.466 True ENSG00000108381 ENSG00000108381 HGNC:756 ASPA gene ASPA Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Canavan disease, MIM# 271900" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000108381 ENSG00000108381 HGNC:756 ATP7A gene ATP7A Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Menkes disease, 309400 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 26937406;21924848;29789304 False 3 100;0;0 0.466 True ENSG00000165240 ENSG00000165240 HGNC:869 AUH gene AUH Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM#250950 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 20855850 False 3 100;0;0 0.466 True ENSG00000148090 ENSG00000148090 HGNC:890 AUH gene AUH Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000148090 ENSG00000148090 HGNC:890 BCAP31 gene BCAP31 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Deafness, dystonia, and cerebral hypomyelination, 300475 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III disorders;Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30302924;29654549;30302924 False 3 100;0;0 0.466 True ENSG00000163170 ENSG00000163170 HGNC:24415 BORCS8 gene BORCS8 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 38128568 False 3 100;0;0 0.466 True ENSG00000254901 ENSG00000254901 HGNC:37247 C2orf69 gene C2orf69 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 34038740;33945503 False 3 100;0;0 0.466 True ENSG00000178074 ENSG00000178074 HGNC:26799 CIC gene CIC Royal Melbourne Hospital;Expert Review Green;Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45 617600 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000079432 ENSG00000079432 HGNC:14214 CLCN2 gene CLCN2 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with ataxia, MIM# 615651" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 23707145 False 3 100;0;0 0.466 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN2 gene CLCN2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, 615651 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 23707145 False 3 100;0;0 0.466 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLDN11 gene CLDN11 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomyelinating leukodystrophy-22, MIM#619328 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33313762 False 3 100;0;0 0.466 True ENSG00000013297 ENSG00000013297 HGNC:8514 CLPP gene CLPP Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM#614129 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27899912 False 3 100;0;0 0.466 True ENSG00000125656 ENSG00000125656 HGNC:2084 CNTNAP1 gene CNTNAP1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, MIM# 618186;Lethal congenital contracture syndrome 7, MIM# 616286 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28374019;29882456 False 3 100;0;0 0.466 True ENSG00000108797 ENSG00000108797 HGNC:8011 COA7 gene COA7 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27683825;29718187 False 3 100;0;0 0.466 True ENSG00000162377 ENSG00000162377 HGNC:25716 COL4A1 gene COL4A1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders 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 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000187498 ENSG00000187498 HGNC:2202 COLGALT1 gene COLGALT1 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3 MIM#618360 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30412317;33709034;31759980 False 3 100;0;0 0.466 True ENSG00000130309 ENSG00000130309 HGNC:26182 COQ2 gene COQ2 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Coenzyme Q10 deficiency, primary, 1 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000173085 ENSG00000173085 HGNC:25223 COX10 gene COX10 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorder Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorders Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000014919 ENSG00000014919 HGNC:2263 CSF1R gene CSF1R Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSMD1 gene CSMD1 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID 38816421 False 3 100;0;0 0.466 True ENSG00000183117 ENSG00000183117 HGNC:14026 CST3 gene CST3 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted leukodystrophy MONDO:0019046 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 38489591 False 3 100;0;0 0.466 True ENSG00000101439 ENSG00000101439 HGNC:2475 CTC1 gene CTC1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 22267198;22387016 False 3 100;0;0 0.466 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTSA gene CTSA Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31177426 False 3 100;0;0 0.466 True ENSG00000064601 ENSG00000064601 HGNC:9251 CYP27A1 gene CYP27A1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive 270800 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 24117163;19439420;19187859 False 3 100;0;0 0.466 True ENSG00000172817 ENSG00000172817 HGNC:2652 CYP7B1 gene CYP7B1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 5A, autosomal recessive, MIM# 270800" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 24117163;19439420;19187859 False 3 100;0;0 0.466 True ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal L2-Hydroxyglutaric aciduria Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25527264;23643384 False 3 100;0;0 0.466 True ENSG00000115866 ENSG00000115866 HGNC:2678 DARS gene DARS Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 23643384 False 3 100;0;0 0.466 True ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 17384640;15002045;16788019 False 3 100;0;0 0.466 True ENSG00000117593 ENSG00000117593 HGNC:25538 DARS2 gene DARS2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 17384640;15002045;16788019 False 3 100;0;0 0.466 True ENSG00000117593 ENSG00000117593 HGNC:25538 DCAF17 gene DCAF17 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Woodhouse-Sakati syndrome, MIM# 241080" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 19026396;20507343 False 3 100;0;0 0.466 True ENSG00000115827 ENSG00000115827 HGNC:25784 DCAF17 gene DCAF17 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, MIM#241080 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31347785 False 3 100;0;0 0.466 True ENSG00000115827 ENSG00000115827 HGNC:25784 DEGS1 gene DEGS1 Expert Review Green;Expert list;Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 18 618404 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5B gene DENND5B Expert Review Green;Other Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 38387458 False 3 100;0;0 0.466 True ENSG00000170456 ENSG00000170456 HGNC:28338 DGUOK gene DGUOK Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 3 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000114956 ENSG00000114956 HGNC:2858 DPYD gene DPYD Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency 274270;5-fluorouracil toxicity 274270 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000188641 ENSG00000188641 HGNC:3012 EARS2 gene EARS2 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 12, MIM# 614924;Leukoencephalopathy with thalamus and brainstem involvement and high lactate" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 22492562;23008233;25854774;26619324;26893310 False 3 100;0;0 0.466 True ENSG00000103356 ENSG00000103356 HGNC:29419 EIF2AK2 gene EIF2AK2 Expert Review Green;Expert Review Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;white matter abnormalities;ataxia;regression with febrile illness Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 32197074 False 3 100;0;0 0.466 True ENSG00000055332 ENSG00000055332 HGNC:9437 EIF2B1 gene EIF2B1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 20301435 False 3 100;0;0 0.466 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B1 gene EIF2B1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with vanishing white matter, MIM# 603896" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with vanishing white matter, MIM# 603896" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B2 gene EIF2B2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter MONDO:0011380 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 20301435 False 3 100;0;0 0.466 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with vanishing white matter, MIM# 603896" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B3 gene EIF2B3 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 20301435 False 3 100;0;0 0.466 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 20301435 False 3 100;0;0 0.466 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B4 gene EIF2B4 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with vanishing white matter, MIM# 603896" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with vanishing white matter, MIM# 603896" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2B5 gene EIF2B5 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 20301435 False 3 100;0;0 0.466 True ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL1 gene ELOVL1 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29496980;32123819;30487246 False 3 100;0;0 0.466 False ENSG00000066322 ENSG00000066322 HGNC:14418 ENTPD1 gene ENTPD1 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, MIM# 615683 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 35471564 False 3 100;0;0 0.466 True ENSG00000138185 ENSG00000138185 HGNC:3363 EPRS gene EPRS Expert Review Green;Expert list;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 15, MIM#617951 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29576217 False 3 100;0;0 0.466 True ENSG00000136628 ENSG00000136628 HGNC:3418 EPRS gene EPRS Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 15, MIM# 617951" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29576217 False 3 100;0;0 0.466 True ENSG00000136628 ENSG00000136628 HGNC:3418 ERCC6 gene ERCC6 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome;UV-sensitive syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne Syndrome;UV-sensitive syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000049167 ENSG00000049167 HGNC:3439 ETFDH gene ETFDH Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Glutaric Acidemia IIC Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000171503 ENSG00000171503 HGNC:3483 FA2H gene FA2H Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, MIM#612319 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31837835;30446360;22965561;21592092 False 3 100;0;0 0.466 True ENSG00000103089 ENSG00000103089 HGNC:21197 FAM126A gene FAM126A Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelination and Congenital Cataract;Leukodystrophy, hypomyelinating, 5, 610532 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000122591 ENSG00000122591 HGNC:24587 FIG4 gene FIG4 Expert Review Green;Expert list;Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4J 611228;Yunis-Varon syndrome 216340;leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30740813;29688489 False 3 100;0;0 0.466 False ENSG00000112367 ENSG00000112367 HGNC:16873 FOLR1 gene FOLR1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency 613068 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000110195 ENSG00000110195 HGNC:3791 FUCA1 gene FUCA1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis;General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000179163 ENSG00000179163 HGNC:4006 GALC gene GALC Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease, 245200 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALC gene GALC Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Krabbe disease, MIM# 245200" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000054983 ENSG00000054983 HGNC:4115 GBE1 gene GBE1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, 263570 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000114480 ENSG00000114480 HGNC:4180 GFAP gene GFAP Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Alexander disease, MIM# 203450" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000131095 ENSG00000131095 HGNC:4235 GFAP gene GFAP Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, 203450 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000168827 ENSG00000168827 HGNC:13780 GJA1 gene GJA1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary spastic paraplegia;Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31023660 False 3 100;0;0 0.466 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800;Reversible posterior leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31842800 False 3 100;0;0 0.466 True ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 2, MIM# 608804" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 22669416;24374284;15192806 False 3 100;0;0 0.466 True ENSG00000198835 ENSG00000198835 HGNC:17494 GJC2 gene GJC2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804, Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, Fabry disease, cardiac variant, 301500 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "GM1-gangliosidosis, type I, MIM# 230500;GM1-gangliosidosis, type II, MIM# 230600" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25691190 False 3 100;0;0 0.466 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLB1 gene GLB1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type III, MIM#230650;white matter abnormality Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLRX5 gene GLRX5 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spasticity, childhood-onset, with hyperglycinemia 616859 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 24334290;30770271 False 3 100;0;0 0.466 True ENSG00000182512 ENSG00000182512 HGNC:20134 GPRC5B gene GPRC5B Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 37143309 False 3 100;0;0 0.466 True ENSG00000167191 ENSG00000167191 HGNC:13308 GRN gene GRN Expert Review Green;Other Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 36970046;36632182 False 3 100;0;0 0.466 True ENSG00000030582 ENSG00000030582 HGNC:4601 HEPACAM gene HEPACAM Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 21419380;21419380 False 3 100;0;0 0.466 True ENSG00000165478 ENSG00000165478 HGNC:26361 HEPACAM gene HEPACAM Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 21419380;21419380 False 3 100;0;0 0.466 True ENSG00000165478 ENSG00000165478 HGNC:26361 HEXA gene HEXA Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Tay-Sachs disease, MIM# 272800" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXA gene HEXA Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000213614 ENSG00000213614 HGNC:4878 HIKESHI gene HIKESHI Expert Review Green;Expert list;Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 13, MIM#616881 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000149196 ENSG00000149196 HGNC:26938 HMBS gene HMBS Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, porphyria-related, MIM# 620711 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27558376;34089223 False 3 50;50;0 0.466 True ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 11461194 False 3 100;0;0 0.466 True ENSG00000117305 ENSG00000117305 HGNC:5005 HPDL gene HPDL Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026;Progressive neurological disorder;Leigh-like syndrome Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 32707086 False 3 100;0;0 0.466 True ENSG00000186603 ENSG00000186603 HGNC:28242 HSD17B4 gene HSD17B4 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Peroxisome-Associated Disorders & Zellweger Syndrome;D-bifunctional protein deficiency Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSPD1 gene HSPD1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 13, autosomal dominant, 605280;Leukodystrophy, hypomyelinating, 4, 612233 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 18571143;27405012;32532876;28377887;27405012 False 3 100;0;0 0.466 True ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA1 gene HTRA1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779;CARASIL syndrome, 600142 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000166033 ENSG00000166033 HGNC:9476 IBA57 gene IBA57 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 23462291;25971455;27785568;28671726;28913435 False 3 100;0;0 0.466 True ENSG00000181873 ENSG00000181873 HGNC:27302 IFIH1 gene IFIH1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7 MIM#615846 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115267 ENSG00000115267 HGNC:18873 ISCA1 gene ISCA1 Expert Review Green;Expert list;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 5 MIM#617613 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28356563;32092383;31016283;30113620;30105122 False 3 100;0;0 0.466 True ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, 616370 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25539947;29297947;29122497;29359243 False 3 100;0;0 0.466 True ENSG00000165898 ENSG00000165898 HGNC:19857 KARS gene KARS Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30737337;31116475;30715177 False 3 100;0;0 0.466 True ENSG00000065427 ENSG00000065427 HGNC:6215 KIF5A gene KIF5A Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myoclonus, intractable, neonatal, MIM#617235 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27463701;27414745 False 3 100;0;0 0.466 True ENSG00000155980 ENSG00000155980 HGNC:6323 L2HGDH gene L2HGDH Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 10399870 False 3 100;0;0 0.466 True ENSG00000087299 ENSG00000087299 HGNC:20499 L2HGDH gene L2HGDH Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "L-2-hydroxyglutaric aciduria, MIM# 236792" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000087299 ENSG00000087299 HGNC:20499 LAMB1 gene LAMB1 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, MONDO:0019046, LAMB1-related;Retinal Vascular Abnormality;mild intellectual disability;white matter lesions;lower limb spasticity Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 32548278 False 3 33;0;67 0.466 True ENSG00000091136 ENSG00000091136 HGNC:6486 LARS2 gene LARS2 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 32442335;30737337 False 3 100;0;0 0.466 True ENSG00000011376 ENSG00000011376 HGNC:17095 LIG3 gene LIG3 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33855352 False 3 100;0;0 0.466 True ENSG00000005156 ENSG00000005156 HGNC:6600 LIG3 gene LIG3 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33855352 False 3 100;0;0 0.466 True ENSG00000005156 ENSG00000005156 HGNC:6600 LMNB1 gene LMNB1 Expert Review Green;Royal Melbourne Hospital;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500;Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16951681;30842973 False 3 100;0;0 0.466 True ENSG00000113368 ENSG00000113368 HGNC:6637 LYRM7 gene LYRM7 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 615838;Mitochondrial complex III deficiency, nuclear type 8;leukoencephalopathy and complex III deficiency;severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000186687 ENSG00000186687 HGNC:28072 MAN2B1 gene MAN2B1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM#248500 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000104774 ENSG00000104774 HGNC:6826 MAPT gene MAPT Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "semantic dementia MONDO:0010857" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33802612;36970046 False 3 100;0;0 0.466 True Other ENSG00000186868 ENSG00000186868 HGNC:6893 MCOLN1 gene MCOLN1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mucolipidosis IV, MIM# 252650" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 10973263;11030752 False 3 100;0;0 0.466 True ENSG00000090674 ENSG00000090674 HGNC:13356 MEF2C gene MEF2C Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27255693;20333642 False 3 100;0;0 0.466 True ENSG00000081189 ENSG00000081189 HGNC:6996 MLC1 gene MLC1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 11254442;21419380;21624973 False 3 100;0;0 0.466 True ENSG00000100427 ENSG00000100427 HGNC:17082 MTFMT gene MTFMT Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15;22499348;23499752;614947 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFR gene MTHFR Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, 236250 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29391032 False 3 100;0;0 0.466 True ENSG00000177000 ENSG00000177000 HGNC:7436 NAXD gene NAXD Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30576410;31755961;32462209 False 3 100;0;0 0.466 True ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27122014;27616477;31758406 False 3 100;0;0 0.466 True ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFAF1 gene NDUFAF1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF3 gene NDUFAF3 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFS1 gene NDUFS1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial complex I disorders;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY;Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I disorders;Leigh syndrome;Mitochondrial Leukoencephalopathy;Leigh syndrome associated with mitochondrial complex I deficiency Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS4 gene NDUFS4 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency;Mitochondrial complex I disorders;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY;Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial respiratory chain complex I deficiency;Leigh syndrome;Genetic leukoencephalopathies: mitochondrial disorders;Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I disorders;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33811136 False 3 100;0;0 0.466 True ENSG00000178127 ENSG00000178127 HGNC:7717 NFE2L2 gene NFE2L2 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591;Disorders of glutathione metabolism Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29018201 False 3 100;0;0 0.466 True Other ENSG00000116044 ENSG00000116044 HGNC:7782 NFU1 gene NFU1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, MIM#605711 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29441221;21944046;22077971;32747156 False 3 100;0;0 0.466 True ENSG00000169599 ENSG00000169599 HGNC:16287 NKX6-2 gene NKX6-2 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000148826 ENSG00000148826 HGNC:19321 NOTCH1 gene NOTCH1 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 35947102 False 3 100;0;0 0.466 True Other ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH1 gene NOTCH1 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 35947102 False 3 100;0;0 0.466 True Other ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH3 gene NOTCH3 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, NOTCH3-related;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1/D 257220 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 26910362;29406968 False 3 100;0;0 0.466 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC1 gene NPC1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Niemann-Pick disease, type C1/D, MIM# 257220" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 26910362;29406968 False 3 100;0;0 0.466 True ENSG00000141458 ENSG00000141458 HGNC:7897 NUBPL gene NUBPL Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency;Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000151413 ENSG00000151413 HGNC:20278 PAFAH1B1 gene PAFAH1B1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lissencephaly 1, MIM# 607432;Subcortical laminar heterotopia, MIM# 607432;MONDO:0011830" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31370080;30568308;20301752 False 3 100;0;0 0.466 True ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31636599;32141105 False 3 100;0;0 0.466 True ENSG00000171759 ENSG00000171759 HGNC:8582 PC gene PC Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, MIM#266150 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000173599 ENSG00000173599 HGNC:8636 PEX1 gene PEX1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6B, 614871 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 14B, 614920 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A, 614859;Peroxisome biogenesis disorder 3B, 266510 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11B, 614885;Peroxisome biogenesis disorder 11A (Zellweger), 614883 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), 614887 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger), 614876;Peroxisome biogenesis disorder 8B, 614877 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger), 614886 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5B, 614867;Peroxisome biogenesis disorder 5A (Zellweger) 614866 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger), 614872;Peroxisome biogenesis disorder 7B, 614873 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), 614882;?Peroxisome biogenesis disorder 10B, 617370 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), 214110;Peroxisome biogenesis disorder 2B, 202370 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), 614862;Peroxisome biogenesis disorder 4B, 614863 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, 614879 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000112357 ENSG00000112357 HGNC:8860 PI4KA gene PI4KA Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental syndrome with hypomyelinating leukodystrophy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 34415322 False 3 100;0;0 0.466 True ENSG00000241973 ENSG00000241973 HGNC:8983 PLP1 gene PLP1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease, 312080 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16130097 False 3 100;0;0 0.466 True ENSG00000123560 ENSG00000123560 HGNC:9086 PLP1 gene PLP1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Pelizaeus-Merzbacher disease, MIM# 312080" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000123560 ENSG00000123560 HGNC:9086 POLG gene POLG Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG gene POLG Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR1C gene POLR1C Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 11, MIM# 616494" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 26151409;32042905 False 3 100;0;0 0.466 True ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1C gene POLR1C Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 11, MIM# 616494 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 26151409;32042905;33190326;34484918 False 3 0;100;0 0.466 True ENSG00000171453 ENSG00000171453 HGNC:20194 POLR3A gene POLR3A Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 21855841 False 3 100;0;0 0.466 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3A gene POLR3A Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31306222 False 3 100;0;0 0.466 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25339210 False 3 100;0;0 0.466 True ENSG00000013503 ENSG00000013503 HGNC:30348 POLR3B gene POLR3B Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27512013;22036171;22036172 False 3 100;0;0 0.466 True ENSG00000013503 ENSG00000013503 HGNC:30348 POLR3K gene POLR3K Expert Review Green;Expert Review Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal POLR3-related leukodystrophy MONDO:0700282 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30584594;33659930;https://doi.org/10.1155/2024/8807171 False 3 50;50;0 0.466 True ENSG00000161980 ENSG00000161980 HGNC:14121 PPP1R21 gene PPP1R21 Expert Review Green;Expert Review Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383;Hypotonia;intellectual disability;white matter abnormalities Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30520571 False 3 100;0;0 0.466 True ENSG00000162869 ENSG00000162869 HGNC:30595 PRNP gene PRNP Expert Review Green;Other Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted fatal familial insomnia MONDO:0010808 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25220284;24252267 False 3 100;0;0 0.466 True Other ENSG00000171867 ENSG00000171867 HGNC:9449 PSAP gene PSAP Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000197746 ENSG00000197746 HGNC:9498 PSAP gene PSAP Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy due to SAP-b deficiency, 249900;Krabbe disease, atypical, 611722 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 26462614 False 3 100;0;0 0.466 True ENSG00000197746 ENSG00000197746 HGNC:9498 PSEN1 gene PSEN1 Expert Review Green;Other Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted early-onset autosomal dominant Alzheimer disease MONDO:0015140 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 36845656 False 3 100;0;0 0.466 True Other ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Expert Review Green;Other Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted early-onset autosomal dominant Alzheimer disease MONDO:0015140 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 36845656 False 3 100;0;0 0.466 True Other ENSG00000143801 ENSG00000143801 HGNC:9509 PTEN gene PTEN Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, MIM# 158350 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29720545;29152901;30664625 False 3 100;0;0 0.466 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTEN gene PTEN Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 1, MIM# 158350 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29720545;29152901;30664625 False 3 100;0;0 0.466 True ENSG00000171862 ENSG00000171862 HGNC:9588 PYCR2 gene PYCR2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 10, MIM# 616420 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25865492;27130255 False 3 100;0;0 0.466 True ENSG00000143811 ENSG00000143811 HGNC:30262 RAB11B gene RAB11B Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29106825 False 3 100;0;0 0.466 False ENSG00000185236 ENSG00000185236 HGNC:9761 RARS gene RARS Expert Review Green;Royal Melbourne Hospital;Expert Review Green;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9 616140 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000113643 ENSG00000113643 HGNC:9870 RNASEH2A gene RNASEH2A Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2A gene RNASEH2A Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 4, MIM# 610333" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16845400;23592335;17846997 False 3 100;0;0 0.466 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 2, MIM# 610181" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16845400 False 3 100;0;0 0.466 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2B gene RNASEH2B Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, 610181 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASEH2C gene RNASEH2C Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 3, MIM# 610329" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16845400;23322642 False 3 100;0;0 0.466 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 19525954 False 3 100;0;0 0.466 True ENSG00000026297 ENSG00000026297 HGNC:21686 RNF220 gene RNF220 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688;Leukodystrophy;CNS hypomyelination;Ataxia;Intellectual disability;Sensorineural hearing impairment;Elevated hepatic transaminases;Hepatic fibrosis;Dilated cardiomyopathy;Spastic paraplegia;Dysarthria;Abnormality of the corpus callosum Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33964137;10881263 False 3 100;0;0 0.466 True ENSG00000187147 ENSG00000187147 HGNC:25552 RPIA gene RPIA Expert Review Green;Literature;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, MIM#608611 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31247379;14988808;31056085 False 3 100;0;0 0.466 True ENSG00000153574 ENSG00000153574 HGNC:10297 RPIA gene RPIA Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ribose 5-phosphate isomerase deficiency, MIM# 608611" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31247379;14988808;31056085 False 3 100;0;0 0.466 True ENSG00000153574 ENSG00000153574 HGNC:10297 RRM2B gene RRM2B Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000048392 ENSG00000048392 HGNC:17296 SAMHD1 gene SAMHD1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 19525956 False 3 100;0;0 0.466 True ENSG00000101347 ENSG00000101347 HGNC:15925 SAMHD1 gene SAMHD1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 5, MIM# 612952" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 19525956 False 3 100;0;0 0.466 True ENSG00000101347 ENSG00000101347 HGNC:15925 SCO1 gene SCO1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency 220110 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, MIM#252011 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency 252011 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green;Royal Melbourne Hospital;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Succinate dehydrogenase-deficient leukoencephalopathy;Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224;Complex II deficiency;mitochondrial leucoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 22972948;26925370;27604842 False 3 100;0;0 0.466 True ENSG00000117118 ENSG00000117118 HGNC:10681 SLC13A3 gene SLC13A3 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30635937;35527102;https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID) False 3 100;0;0 0.466 True ENSG00000158296 ENSG00000158296 HGNC:14430 SLC16A2 gene SLC16A2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM# 300523;Hypomyelination Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 15980113;31410843;20301789 False 3 100;0;0 0.466 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC17A5 gene SLC17A5 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Salla disease 604369;Sialic acid storage disorder, infantile 269920" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16417876 False 3 100;0;0 0.466 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC25A12 gene SLC25A12 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelination, global cerebral 612949 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A4 gene SLC25A4 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000151729 ENSG00000151729 HGNC:10990 SNORD118 gene SNORD118 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy, brain calcifications, and cysts 614561" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27571260 False 3 100;0;0 0.466 True ENSG00000200463 ENSG00000200463 HGNC:32952 SNORD118 gene SNORD118 Expert Review Green;Royal Melbourne Hospital;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 614561;Leukoencephalopathy, brain calcifications and cysts, 614561 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27571260 False 3 100;0;0 0.466 True ENSG00000200463 ENSG00000200463 HGNC:32952 SOX10 gene SOX10 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy;PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE;General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000100146 ENSG00000100146 HGNC:11190 SPART gene SPART Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Troyer syndrome 275900 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28875386;15372254 False 3 100;0;0 0.466 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPG11 gene SPG11 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2X, 616668;Spastic paraplegia 11, autosomal recessive, MIM#604360 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 18067136 False 3 100;0;0 0.466 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPG11 gene SPG11 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 11, autosomal recessive, MIM# 604360" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 18067136 False 3 100;0;0 0.466 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mast syndrome 248900 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 14564668 False 3 100;0;0 0.466 True ENSG00000090487 ENSG00000090487 HGNC:20373 SUCLA2 gene SUCLA2 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5;Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUMF1 gene SUMF1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Multiple sulfatase deficiency Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000144455 ENSG00000144455 HGNC:20376 SURF1 gene SURF1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency;Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorder Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000136463 ENSG00000136463 HGNC:24316 TMEM106B gene TMEM106B Expert Review Green;Royal Melbourne Hospital;Expert Review Green;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating 16, MIM#617964 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 False ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM163 gene TMEM163 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomyelinating leukodystrophy, MONDO:0019046 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 35953447 False 3 100;0;0 0.466 True ENSG00000152128 ENSG00000152128 HGNC:25380 TMEM63A gene TMEM63A Expert Review Green;Expert list;Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31587869 False 3 100;0;0 0.466 False ENSG00000196187 ENSG00000196187 HGNC:29118 TPP2 gene TPP2 Expert Review Green;Expert Review Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25414442 False 3 100;0;0 0.466 True ENSG00000134900 ENSG00000134900 HGNC:12016 TREM2 gene TREM2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 12080485;15883308 False 3 100;0;0 0.466 True ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000213689 ENSG00000213689 HGNC:12269 TREX1 gene TREX1 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, 225750;Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000213689 ENSG00000213689 HGNC:12269 TUBB4A gene TUBB4A Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leukodystrophy, hypomyelinating, 6, MIM# 612438" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 24850488;23582646 False 3 100;0;0 0.466 True ENSG00000104833 ENSG00000104833 HGNC:20774 TUBB4A gene TUBB4A Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, MIM#612438 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28791129 False 3 100;0;0 0.466 True ENSG00000104833 ENSG00000104833 HGNC:20774 TUFM gene TUFM Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, MIM# 610678;Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28132884;26741492;17160893 False 3 100;0;0 0.466 True ENSG00000178952 ENSG00000178952 HGNC:12420 TYMP gene TYMP Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 9924029;10852545 False 3 100;0;0 0.466 True ENSG00000025708 ENSG00000025708 HGNC:3148 TYMP gene TYMP Royal Melbourne Hospital;Expert Review Green Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 0;0;0 0.466 False ENSG00000025708 ENSG00000025708 HGNC:3148 TYROBP gene TYROBP Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000011600 ENSG00000011600 HGNC:12449 UFM1 gene UFM1 Expert Review Green;Expert list;Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14 617899 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29868776 False 3 100;0;0 0.466 True ENSG00000120686 ENSG00000120686 HGNC:20597 VPS11 gene VPS11 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12, MIM#616683 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27120463;26307567;27473128 False 3 100;0;0 0.466 True ENSG00000160695 ENSG00000160695 HGNC:14583 WARS gene WARS Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 35815345 PMID: 35790048 False 3 100;0;0 0.466 True ENSG00000140105 ENSG00000140105 HGNC:12729 WARS2 gene WARS2 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31282308;28650581;30920170 False 3 100;0;0 0.466 True ENSG00000116874 ENSG00000116874 HGNC:12730 ZFYVE26 gene ZFYVE26 Expert Review Green;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, 270700 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 3 100;0;0 0.466 True ENSG00000072121 ENSG00000072121 HGNC:20761 ZFYVE26 gene ZFYVE26 Expert Review Green;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, MIM# 270700 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 19084844 False 3 100;0;0 0.466 True ENSG00000072121 ENSG00000072121 HGNC:20761 AARS gene AARS Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31775912 False 2 0;100;0 0.466 True ENSG00000090861 ENSG00000090861 HGNC:20 ABCC9 gene ABCC9 Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability and myopathy syndrome, MIM# 619719 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31575858 False 2 0;100;0 0.466 True ENSG00000069431 ENSG00000069431 HGNC:60 ANXA11 gene ANXA11 Expert Review Amber;Expert Review Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 34048612 False 2 0;100;0 0.466 True ENSG00000122359 ENSG00000122359 HGNC:535 AQP4 gene AQP4 Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 37143309 False 2 0;100;0 0.466 True ENSG00000171885 ENSG00000171885 HGNC:637 ATP11A gene ATP11A Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 34403372 False 2 0;100;0 0.466 True Other ENSG00000068650 ENSG00000068650 HGNC:13552 ATP7B gene ATP7B Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, 277900 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16966556;12020274 False 2 0;100;0 0.466 True ENSG00000123191 ENSG00000123191 HGNC:870 C1R gene C1R Expert Review Amber;Other;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080);Leukodystrophy - adult onset Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 8958339;30535813 False 2 0;100;0 0.466 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000159403 ENSG00000159403 HGNC:1246 CNP gene CNP Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 20, MIM# 619071 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 32128616;12590258 False 2 0;100;0 0.466 True ENSG00000173786 ENSG00000173786 HGNC:2158 CTC1 gene CTC1 Expert Review Amber;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, 612199 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 22267198;22387016;22532422 False 2 0;100;0 0.466 True ENSG00000178971 ENSG00000178971 HGNC:26169 CYP2U1 gene CYP2U1 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive 615030 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27292318 False 2 0;100;0 0.466 False ENSG00000155016 ENSG00000155016 HGNC:20582 ERCC2 gene ERCC2 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive 601675 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29451896 False 2 0;100;0 0.466 False ENSG00000104884 ENSG00000104884 HGNC:3434 FBP2 gene FBP2 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leukodystrophy, childhood-onset, remitting, MIM# 619864" Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33977262 False 2 0;100;0 0.466 True ENSG00000130957 ENSG00000130957 HGNC:3607 FDX2 gene FDX2 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30010796 False 2 0;100;0 0.466 True ENSG00000267673 ENSG00000267673 HGNC:30546 GCDH gene GCDH Expert Review Amber;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I, MIM#231670 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 2 0;100;0 0.466 True ENSG00000105607 ENSG00000105607 HGNC:4189 GFPT1 gene GFPT1 Expert Review Amber;Expert list;Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates 610542;Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30635494 False 2 50;50;0 0.466 False ENSG00000198380 ENSG00000198380 HGNC:4241 ITM2B gene ITM2B Expert Review Amber;Other Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ABri amyloidosis MONDO:0008306 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 10775542 False 2 0;100;0 0.466 True Other ENSG00000136156 ENSG00000136156 HGNC:6174 LAMB1 gene LAMB1 Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cystic leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29888467;25925986 False 2 0;100;0 0.466 True ENSG00000091136 ENSG00000091136 HGNC:6486 LSM7 gene LSM7 Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal leukodystrophy MONDO:0019046, LRM7-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 https://doi.org/10.1016/j.xhgg.2021.100034;39420558 False 2 0;50;50 0.466 True ENSG00000130332 ENSG00000130332 HGNC:20470 MAL gene MAL Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 28, MIM# 620978 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 35217805 False 2 0;100;0 0.466 True ENSG00000172005 ENSG00000172005 HGNC:6817 MCOLN1 gene MCOLN1 Expert Review Amber;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, 252650 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 2 0;100;0 0.466 True ENSG00000090674 ENSG00000090674 HGNC:13356 MLC1 gene MLC1 Expert Review Amber;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts (MLC);General Leukodystrophy & Mitochondrial Leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 11254442;21419380;21624973 False 2 0;100;0 0.466 True ENSG00000100427 ENSG00000100427 HGNC:17082 NDUFA2 gene NDUFA2 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 618235;leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28857146;32154054;18513682 False 2 0;100;0 0.466 True ENSG00000131495 ENSG00000131495 HGNC:7685 NPC2 gene NPC2 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2 607625 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25396745 False 2 0;100;0 0.466 True ENSG00000119655 ENSG00000119655 HGNC:14537 PLD3 gene PLD3 Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 34267643 False 2 0;100;0 0.466 False ENSG00000105223 ENSG00000105223 HGNC:17158 PLEKHG2 gene PLEKHG2 Expert Review Amber;Expert Review Amber;Expert list;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy and acquired microcephaly with or without dystonia 616763 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 26573021 False 2 0;100;0 0.466 False ENSG00000090924 ENSG00000090924 HGNC:29515 POLG2 gene POLG2 Expert Review Amber;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 25655951 False 2 0;100;0 0.466 True ENSG00000256525 ENSG00000256525 HGNC:9180 POLR1A gene POLR1A Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 27, MIM# 620675 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28051070;36917474 False 2 0;67;33 0.466 True ENSG00000068654 ENSG00000068654 HGNC:17264 PPT1 gene PPT1 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 256730 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 5706364;8576553 False 2 0;100;0 0.466 False ENSG00000131238 ENSG00000131238 HGNC:9325 RNASET2 gene RNASET2 Expert Review Amber;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly, 612951 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 19525954 False 2 0;100;0 0.466 True ENSG00000026297 ENSG00000026297 HGNC:21686 RNF216 gene RNF216 Expert Review Amber;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 28334938;26250479 False 2 0;100;0 0.466 True ENSG00000011275 ENSG00000011275 HGNC:21698 SLC13A5 gene SLC13A5 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 615905 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 27913086 False 2 0;100;0 0.466 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046, SLC35B2-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 35325049 False 2 0;100;0 0.466 True ENSG00000157593 ENSG00000157593 HGNC:16872 SPAST gene SPAST Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant 182601 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 23968121 False 2 0;100;0 0.466 True ENSG00000021574 ENSG00000021574 HGNC:11233 SPG7 gene SPG7 Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive 607259 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 20108356;17646629 False 2 0;100;0 0.466 True ENSG00000197912 ENSG00000197912 HGNC:11237 TOMM70 gene TOMM70 Expert Review Amber;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White matter abnormalities;Developmental delay;Regression;Movement disorder Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 32356556 False 2 0;100;0 0.466 True ENSG00000154174 ENSG00000154174 HGNC:11985 TWNK gene TWNK Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31455269;19353676 False 2 0;100;0 0.466 True ENSG00000107815 ENSG00000107815 HGNC:1160 TWNK gene TWNK Expert Review Amber;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245;Perrault syndrome 5 616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31455269;19353676 False 2 0;100;0 0.466 True ENSG00000107815 ENSG00000107815 HGNC:1160 AIMP2 gene AIMP2 Literature;Expert Review Red;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 17 618006 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29215095 False 1 0;0;100 0.466 False ENSG00000106305 ENSG00000106305 HGNC:20609 APOPT1 gene APOPT1 Expert Review Red;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 True ENSG00000256053 ENSG00000256053 HGNC:20492 ATPAF2 gene ATPAF2 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 14757859 False 1 0;0;100 0.466 False ENSG00000171953 ENSG00000171953 HGNC:18802 COL4A2 gene COL4A2 Expert Review Red;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain small vessel disease 2, 614483 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 30413629;27624120;24390199 False 1 0;0;100 0.466 True ENSG00000134871 ENSG00000134871 HGNC:2203 COQ8A gene COQ8A Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4 612016 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ9 gene COQ9 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5 614654 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000088682 ENSG00000088682 HGNC:25302 EARS2 gene EARS2 Expert Review Red;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924;Leukoencephalopathy with thalamus and brainstem involvement and high lactate Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 22492562;23008233;25854774;26619324;26893310 False 1 0;0;100 0.466 True ENSG00000103356 ENSG00000103356 HGNC:29419 ELP1 gene ELP1 Expert Review Red;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092, ELP1-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 PMID: 36864284 False 1 0;0;100 0.466 True ENSG00000070061 ENSG00000070061 HGNC:5959 ERCC3 gene ERCC3 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive 616390 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000163161 ENSG00000163161 HGNC:3435 GAN gene GAN Expert Review Red;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, MIM#256850 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 True ENSG00000261609 ENSG00000261609 HGNC:4137 GTF2H5 gene GTF2H5 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive 616395 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000272047 ENSG00000272047 HGNC:21157 MARS gene MARS Expert Review Red;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 True ENSG00000166986 ENSG00000166986 HGNC:6898 MPLKIP gene MPLKIP Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive 234050 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000168303 ENSG00000168303 HGNC:16002 MRPS16 gene MRPS16 Expert list;Expert Review Red;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2, 610498 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000182180 ENSG00000182180 HGNC:14048 OCLN gene OCLN Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1 251290 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Royal Melbourne Hospital;Expert Review Red Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, 309000 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000122126 ENSG00000122126 HGNC:8108 PHGDH gene PHGDH Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000092621 ENSG00000092621 HGNC:8923 PRF1 gene PRF1 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2 603553 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 23443029;21959744 False 1 0;0;100 0.466 False ENSG00000180644 ENSG00000180644 HGNC:9360 PSAT1 gene PSAT1 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2 616038;?Phosphoserine aminotransferase deficiency 610992 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000135069 ENSG00000135069 HGNC:19129 RPS6KA3 gene RPS6KA3 Expert Review Red;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry syndrome, 303600 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16691578 False 1 0;0;100 0.466 True ENSG00000177189 ENSG00000177189 HGNC:10432 SCP2 gene SCP2 Expert Review Red;Royal Melbourne Hospital Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy 613724 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 16685654;26497993 False 1 0;0;100 0.466 True ENSG00000116171 ENSG00000116171 HGNC:10606 SLC25A1 gene SLC25A1 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 29226520 False 1 0;0;100 0.466 False ENSG00000100075 ENSG00000100075 HGNC:10979 STX11 gene STX11 Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 4 603552 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert Review Red;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 5 613101 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 True ENSG00000076944 ENSG00000076944 HGNC:11445 TACO1 gene TACO1 Expert Review Red;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, adult onset Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 33709035 False 1 0;0;100 0.466 True ENSG00000136463 ENSG00000136463 HGNC:24316 U2AF2 gene U2AF2 Expert Review Red;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 34112922;37092751;36747105;37134193 False 1 0;0;100 0.466 True ENSG00000063244 ENSG00000063244 HGNC:23156 UNC13D gene UNC13D Expert Review Red;Expert list Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3 608898 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 False 1 0;0;100 0.466 True ENSG00000092929 ENSG00000092929 HGNC:23147 FTDALS str C9orf72 Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 36970046;36632182 False 3 100;0;0 0.466 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573427 27573544 27573529 27573546 GGGGCC 25 60 NIID str NOTCH2NL Expert Review Green;Literature Leukodystrophy_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronal intranuclear inclusion disease MIM#603472;Oculopharyngodistal myopathy 3 MIM#619473;Tremor, hereditary essential, 6 MIM#618866 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500; Abnormal CNS myelination;HP:0011400 31178126;31332381;31819945;33887199;33943039;32250060;31332380;32852534;32989102;34333668 False 3 100;0;0 0.466 True ENSG00000213240 ENSG00000264343 HGNC:31862 1 145209324 145209344 149390803 149390829 GGC 40 60