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 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