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 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