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 ABCC9 gene ABCC9 Expert Review Amber;Literature Leukodystrophy - paediatric 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 31575858 False 2 0;100;0 0.318 True ENSG00000069431 ENSG00000069431 HGNC:60 AQP4 gene AQP4 Expert Review Amber;Literature Leukodystrophy - paediatric 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 37143309 False 2 0;100;0 0.318 True ENSG00000171885 ENSG00000171885 HGNC:637 ATP11A gene ATP11A Expert Review Amber;Literature Leukodystrophy - paediatric 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 PMID: 34403372 False 2 0;100;0 0.318 True Other ENSG00000068650 ENSG00000068650 HGNC:13552 CNP gene CNP Expert Review Amber;Literature Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 20, MIM# 619071 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 32128616;12590258 False 2 0;100;0 0.318 True ENSG00000173786 ENSG00000173786 HGNC:2158 CYP2U1 gene CYP2U1 Expert list;Expert Review Amber Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive 615030 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 27292318 False 2 0;100;0 0.318 False ENSG00000155016 ENSG00000155016 HGNC:20582 ERCC2 gene ERCC2 Expert list;Expert Review Amber Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive 601675 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 29451896 False 2 0;100;0 0.318 False ENSG00000104884 ENSG00000104884 HGNC:3434 FBP2 gene FBP2 Expert list;Expert Review Amber Leukodystrophy - paediatric 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 33977262 False 2 0;100;0 0.318 True ENSG00000130957 ENSG00000130957 HGNC:3607 FDX2 gene FDX2 Expert list;Expert Review Amber Leukodystrophy - paediatric 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 30010796 False 2 0;100;0 0.318 True ENSG00000267673 ENSG00000267673 HGNC:30546 GFPT1 gene GFPT1 Expert list;Expert Review Amber;Expert Review Green;Literature Leukodystrophy - paediatric 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 30635494 False 2 50;50;0 0.318 False ENSG00000198380 ENSG00000198380 HGNC:4241 LAMB1 gene LAMB1 Expert Review Amber;Literature Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cystic leukoencephalopathy Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 29888467;25925986 False 2 0;100;0 0.318 True ENSG00000091136 ENSG00000091136 HGNC:6486 LSM7 gene LSM7 Expert Review Amber;Literature Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal leukodystrophy MONDO:0019046, LRM7-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 https://doi.org/10.1016/j.xhgg.2021.100034;39420558 False 2 0;50;50 0.318 True ENSG00000130332 ENSG00000130332 HGNC:20470 MAL gene MAL Expert Review Amber;Literature Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 28, MIM# 620978 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 35217805 False 2 0;100;0 0.318 True ENSG00000172005 ENSG00000172005 HGNC:6817 NDUFA2 gene NDUFA2 Expert list;Expert Review Amber Leukodystrophy - paediatric 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 28857146;32154054;18513682 False 2 0;100;0 0.318 True ENSG00000131495 ENSG00000131495 HGNC:7685 PLEKHG2 gene PLEKHG2 Expert list;Expert Review Amber Leukodystrophy - paediatric 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 26573021 False 2 0;100;0 0.318 False ENSG00000090924 ENSG00000090924 HGNC:29515 POLR1A gene POLR1A Expert list;Expert Review Amber Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 27, MIM# 620675 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 28051070;36917474 False 2 0;67;33 0.318 True ENSG00000068654 ENSG00000068654 HGNC:17264 PPT1 gene PPT1 Expert list;Expert Review Amber Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 256730 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 5706364;8576553 False 2 0;100;0 0.318 False ENSG00000131238 ENSG00000131238 HGNC:9325 SLC13A5 gene SLC13A5 Expert list;Expert Review Amber Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 615905 Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 27913086 False 2 0;100;0 0.318 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Leukodystrophy - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046, SLC35B2-related Leukodystrophy;HP:0002415; Abnormal cerebral white matter morphology;HP:0002500 35325049 False 2 0;100;0 0.318 True ENSG00000157593 ENSG00000157593 HGNC:16872 TOMM70 gene TOMM70 Expert Review Amber;Literature Leukodystrophy - paediatric 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 32356556 False 2 0;100;0 0.318 True ENSG00000154174 ENSG00000154174 HGNC:11985 TWNK gene TWNK Expert list;Expert Review Amber Leukodystrophy - paediatric 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 31455269;19353676 False 2 0;100;0 0.318 True ENSG00000107815 ENSG00000107815 HGNC:1160