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 AARS2 gene AARS2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ovarian failure;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951;24808023;25705216;27251004 False 3 100;0;0 1.186 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCD1 gene ABCD1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100 25655951;8040304;11810273 False 3 100;0;0 1.186 False ENSG00000101986 ENSG00000101986 HGNC:61 ACBD5 gene ACBD5 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy, OMIM:618863 23105016;27899449;27799409;33427402 False 3 100;0;0 1.186 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACOX1 gene ACOX1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470;Mitchell syndrome, OMIM:618960;General Leukodystrophy & Mitochondrial Leukoencephalopathy 17458872;25655951;11815777;32169171 False 3 100;0;0 1.186 False ENSG00000161533 ENSG00000161533 HGNC:119 ADAR gene ADAR Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;General Leukodystrophy & Mitochondrial Leukoencephalopathy Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_584 False 3 100;0;0 1.186 False ENSG00000160710 ENSG00000160710 HGNC:225 AIMP1 gene AIMP1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 25655951;24958424;21092922;24958424;26173967 False 3 100;0;0 1.186 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALDH3A2 gene ALDH3A2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000072210 ENSG00000072210 HGNC:403 ARSA gene ARSA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100" 25655951;2574462;1670590 False 3 100;0;0 1.186 False ENSG00000100299 ENSG00000100299 HGNC:713 ASPA gene ASPA Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 25655951;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000108381 ENSG00000108381 HGNC:756 BCAP31 gene BCAP31 Expert Review Green;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia and cerebellar hypomyelination, 300475 False 3 0;0;0 1.186 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCS1L gene BCS1L Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex III disorders 25655951 False 3 100;0;0 1.186 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299 29654549;29501406;24334290;21944046;30302924 False 3 100;0;0 1.186 False ENSG00000163170 ENSG00000163170 HGNC:24415 CIC gene CIC Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45 617600 21076407;28288114;24896178 False 3 100;0;0 1.186 False ENSG00000079432 ENSG00000079432 HGNC:14214 CLCN2 gene CLCN2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 25655951 False 3 100;0;0 1.186 False ENSG00000114859 ENSG00000114859 HGNC:2020 CNTNAP1 gene CNTNAP1 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, OMIM:618186 28374019;29511323;29882456 False 3 100;0;0 1.186 False ENSG00000108797 ENSG00000108797 HGNC:8011 COLGALT1 gene COLGALT1 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, OMIM:618360 30412317;33709034;31759980 False 3 100;0;0 1.186 False ENSG00000130309 ENSG00000130309 HGNC:26182 COQ2 gene COQ2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ8A gene COQ8A Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 4, 612016;Spinocerebellar Ataxia Type 25655951 False 3 0;0;0 1.186 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX10 gene COX10 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;General Leukodystrophy & Mitochondrial Leukoencephalopathy 24100867;25655951;12928484 False 3 100;0;0 1.186 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119;Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000014919 ENSG00000014919 HGNC:2263 CSF1R gene CSF1R Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820;Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 22197934;24336230;23408870;30982609;30982608 False 3 100;0;0 1.186 False ENSG00000182578 ENSG00000182578 HGNC:2433 CYP27A1 gene CYP27A1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Cerebrotendinous xanthomatosis, 213700 25655951 False 3 100;0;0 1.186 False ENSG00000135929 ENSG00000135929 HGNC:2605 D2HGDH gene D2HGDH Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal L2-Hydroxyglutaric aciduria 25655951 False 3 0;0;0 1.186 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281" 25655951;23643384 False 3 100;0;0 1.186 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL);General Leukodystrophy & Mitochondrial Leukoencephalopathy;Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 25655951 False 3 100;0;0 1.186 False ENSG00000117593 ENSG00000117593 HGNC:25538 DGUOK gene DGUOK Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 3;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000114956 ENSG00000114956 HGNC:2858 DPYD gene DPYD Expert Review;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal " 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270" False 3 100;0;0 1.186 False ENSG00000188641 ENSG00000188641 HGNC:3012 EARS2 gene EARS2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL);General Leukodystrophy & Mitochondrial Leukoencephalopathy;Combined oxidative phosphorylation deficiency 12 25655951 False 3 100;0;0 1.186 False ENSG00000103356 ENSG00000103356 HGNC:29419 EIF2AK2 gene EIF2AK2 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 32197074;33236446 False 3 100;0;0 1.186 False ENSG00000055332 ENSG00000055332 HGNC:9437 EIF2B1 gene EIF2B1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood Ataxia with Central Nervous System Hypomyelination;Leukoencephalopathy with vanishing white matter, 603896;eIF2B related disorder (Vanishing WM Disease or CACH);General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951;15776425;16807905 False 3 100;0;0 1.186 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood Ataxia with Central Nervous System Hypomyelination;Leukoencephalopathy with vanishing white matter, 603896;Ovarioleukodystrophy, 603896;eIF2B related disorder (Vanishing WM Disease or CACH);General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 603896;eIF2B related disorder (Vanishing WM Disease or CACH);General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951;11835386;19158808 False 3 100;0;0 1.186 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephaly with vanishing white matter, 603896;Ovarioleukodystrophy, 603896 25655951;11835386;12707859;26043506;25089094 False 3 100;0;0 1.186 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Ovarioleukodystrophy, 603896;eIF2B related disorder (Vanishing WM Disease or CACH);General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951;11704758;12325082 False 3 100;0;0 1.186 False ENSG00000145191 ENSG00000145191 HGNC:3261 ERCC6 gene ERCC6 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome;UV-sensitive syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne Syndrome;UV-sensitive syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000049167 ENSG00000049167 HGNC:3439 ETFDH gene ETFDH Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric Acidemia IIC;Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000171503 ENSG00000171503 HGNC:3483 FAM126A gene FAM126A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelination and Congenital Cataract;Leukodystrophy, hypomyelinating, 5, 610532 25655951 False 3 100;0;0 1.186 False ENSG00000122591 ENSG00000122591 HGNC:24587 FLVCR2 gene FLVCR2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 False 3 0;0;0 1.186 False ENSG00000119686 ENSG00000119686 HGNC:20105 FOLR1 gene FOLR1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration due to cerebral folate transport deficiency 613068" 19732866; 20018644; 20857335 False 3 100;0;0 1.186 False ENSG00000110195 ENSG00000110195 HGNC:3791 FUCA1 gene FUCA1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000179163 ENSG00000179163 HGNC:4006 GALC gene GALC Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 8786069;25655951;20886637 False 3 100;0;0 1.186 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALNT2 gene GALNT2 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt 618885 27508872;32293671 False 3 100;0;0 1.186 False ENSG00000143641 ENSG00000143641 HGNC:4124 GBE1 gene GBE1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, OMIM:263570;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000114480 ENSG00000114480 HGNC:4180 GFAP gene GFAP Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False Other - please provide details in the comments ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000168827 ENSG00000168827 HGNC:13780 GJA1 gene GJA1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 False 3 100;0;0 1.186 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders 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) "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800" 27564080 False 3 100;0;0 1.186 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804;Spastic paraplegia 44, autosomal recessive, 613206;Lymphedema, hereditary, IC, 613480 25655951 False 3 100;0;0 1.186 False ENSG00000198835 ENSG00000198835 HGNC:17494 HEPACAM gene HEPACAM Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 25655951 False 3 100;0;0 1.186 False ENSG00000165478 ENSG00000165478 HGNC:26361 HSD17B4 gene HSD17B4 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;D-bifunctional protein deficiency;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSPD1 gene HSPD1 Expert Review Green;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;27405012;32532876;28377887;27405012 False 3 0;100;0 1.186 False ENSG00000144381 ENSG00000144381 HGNC:5261 IBA57 gene IBA57 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 28671726;23462291;25971455;28913435;27785568 False 3 100;0;0 1.186 False ENSG00000181873 ENSG00000181873 HGNC:27302 IFIH1 gene IFIH1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7, OMIM:615846 False 3 100;0;0 1.186 False ENSG00000115267 ENSG00000115267 HGNC:18873 ISCA2 gene ISCA2 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, 616370 27564080;25558065;25539947;22323289;29359243 False 3 50;0;50 1.186 False ENSG00000165898 ENSG00000165898 HGNC:19857 L2HGDH gene L2HGDH Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 25655951 False 3 0;0;0 1.186 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMB1 gene LAMB1 Expert Review Green;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, OMIM:615191;cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 32548278;34606115;23472759;25925986;29888467 False 3 0;0;0 1.186 False ENSG00000091136 ENSG00000091136 HGNC:6486 LIG3 gene LIG3 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 3 100;0;0 1.186 False ENSG00000005156 ENSG00000005156 HGNC:6600 LMNB1 gene LMNB1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500 25655951;21909802;21225301 False 3 100;0;0 1.186 False Other - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LYRM7 gene LYRM7 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8;615838;leukoencephalopathy and complex III deficiency;severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle 27564080;27151179;27151179;27151179 False 3 100;0;0 1.186 False ENSG00000186687 ENSG00000186687 HGNC:28072 MCOLN1 gene MCOLN1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mucolipidosis IV 252650" 26926398; 26597493 False 3 0;0;0 1.186 False ENSG00000090674 ENSG00000090674 HGNC:13356 MEF2C gene MEF2C Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations False 3 0;0;0 1.186 False ENSG00000081189 ENSG00000081189 HGNC:6996 MLC1 gene MLC1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts (MLC);General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000100427 ENSG00000100427 HGNC:17082 MPLKIP gene MPLKIP Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy, nonphotosensitive 25655951 False 3 0;0;0 1.186 False ENSG00000168303 ENSG00000168303 HGNC:16002 MTFMT gene MTFMT Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 27564080;21907147;24461907 False 3 100;0;0 1.186 False ENSG00000103707 ENSG00000103707 HGNC:29666 NAXE gene NAXE Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 27616477;27122014;27290639;30022751;31758406;31745726 False 3 100;0;0 1.186 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA2 gene NDUFA2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial leukoencephalopathy 28857146 False 3 100;0;0 1.186 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF1 gene NDUFAF1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy 16218961;24963768;25655951;17557076;21931170 False 3 100;0;0 1.186 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF3 gene NDUFAF3 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency 252010" 29344937;19463981 False 3 100;0;0 1.186 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFS1 gene NDUFS1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 25655951 False 3 100;0;0 1.186 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex I disorders;Leigh syndrome;Leigh syndrome associated with mitochondrial complex I deficiency 11220739;23266820;22036843;20819849;25655951 False 3 100;0;0 1.186 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS4 gene NDUFS4 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex I disorders;MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 25655951 False 3 100;0;0 1.186 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial respiratory chain complex I deficiency;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Genetic leukoencephalopathies: mitochondrial disorders;Leigh syndrome 25655951 False 3 100;0;0 1.186 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex I disorders;Leigh syndrome due to mitochondrial complex I deficiency 25655951 False 3 100;0;0 1.186 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy 27344648;26758110;26345448;25655951 False 3 100;0;0 1.186 False ENSG00000167792 ENSG00000167792 HGNC:7716 NKX6-2 gene NKX6-2 Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560" 28575651; 15601927 False 3 100;0;0 1.186 False ENSG00000148826 ENSG00000148826 HGNC:19321 NUBPL gene NUBPL Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex I deficiency False 3 100;0;0 1.186 False ENSG00000151413 ENSG00000151413 HGNC:20278 PAFAH1B1 gene PAFAH1B1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432 False 3 0;0;0 1.186 False ENSG00000007168 ENSG00000007168 HGNC:8574 PEX1 gene PEX1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Peroxisome biogenesis disorder 1A,B;Peroxisome biogenesis disorder 1A (Zellweger) 25655951 False 3 100;0;0 1.186 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7;ZELLWEGER SYNDROME 25655951 False 3 100;0;0 1.186 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 3A,B;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Peroxisome biogenesis disorder 3A (Zellweger);Peroxisome biogenesis disorder 3B 25655951 False 3 100;0;0 1.186 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B 25655951 False 3 100;0;0 1.186 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX16 gene PEX16 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 8A, (Zellweger);Peroxisome biogenesis disorder 8B;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 False 3 100;0;0 1.186 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX2 gene PEX2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 5A (Zellweger) 614866;Peroxisome biogenesis disorder 5B 614867" 25655951 False 3 100;0;0 1.186 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome 25655951 False 3 100;0;0 1.186 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 25655951;23245813;10968777 False 3 100;0;0 1.186 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370" 26220973;27290639 False 3 100;0;0 1.186 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 25655951;29220678 False 3 100;0;0 1.186 False Other ENSG00000124587 ENSG00000124587 HGNC:8859 PI4KA gene PI4KA Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 25855803;34415322;34415310 False 3 100;0;0 1.186 False ENSG00000241973 ENSG00000241973 HGNC:8983 PLP1 gene PLP1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Other;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease 312080;Spastic paraplegia 2, X-linked 312920 Edit 25655951 False 3 100;0;0 1.186 False ENSG00000123560 ENSG00000123560 HGNC:9086 POLG gene POLG Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459" 25655951 False 3 100;0;0 1.186 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131" 25655951;27592148;30157269;21555342;31286721 False 3 100;0;0 1.186 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLR1C gene POLR1C Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 11 616494" 25655951;26151409 False 3 100;0;0 1.186 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR3A gene POLR3A Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 607694;General Leukodystrophy & Mitochondrial Leukoencephalopathy" 25655951;21855841 False 3 100;0;0 1.186 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 25655951 False 3 100;0;0 1.186 False ENSG00000013503 ENSG00000013503 HGNC:30348 PSAP gene PSAP Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Combined SAP deficiency 611721;Gaucher disease, atypical 610539;Krabbe disease, atypical 611722;Metachromatic leukodystrophy due to SAP-b deficiency 249900" 25655951;15773042;2615292;10682309 False 3 100;0;0 1.186 False ENSG00000197746 ENSG00000197746 HGNC:9498 PYCR2 gene PYCR2 Expert Review Green;Other Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 10 616420 False 3 100;0;0 1.186 True ENSG00000143811 ENSG00000143811 HGNC:30262 RAB11B gene RAB11B Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 29106825 False 3 100;0;0 1.186 False ENSG00000185236 ENSG00000185236 HGNC:9761 RARS gene RARS Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9, OMIM:616140 31814314;28905880;24777941 False 3 100;0;0 1.186 False ENSG00000113643 ENSG00000113643 HGNC:9870 RNASEH2A gene RNASEH2A Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_585 False 3 100;0;0 1.186 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 False 3 100;0;0 1.186 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres Syndrome 3;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951;27411419 False 3 100;0;0 1.186 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy, cystic, without megalencephaly 612951" 25655951 False 3 100;0;0 1.186 False ENSG00000026297 ENSG00000026297 HGNC:21686 RRM2B gene RRM2B Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders 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" 25655951 False 3 100;0;0 1.186 False ENSG00000048392 ENSG00000048392 HGNC:17296 SAMHD1 gene SAMHD1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000101347 ENSG00000101347 HGNC:15925 SCO1 gene SCO1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 25655951;23878101;19353847 False 3 100;0;0 1.186 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377" 25655951 False 3 100;0;0 1.186 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with dystonia and motor neuropathy 613724" 25655951;26497993 False 3 100;0;0 1.186 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, OMIM:252011 22972948;24781757 False 3 100;0;0 1.186 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency 252011 25655951;19465911;22995659 False 3 100;0;0 1.186 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 25655951;22972948;26925370 - suggests incomplete penetrance;26642834 - multiple cases reported False 3 100;0;0 1.186 False ENSG00000117118 ENSG00000117118 HGNC:10681 SLC16A2 gene SLC16A2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders 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) Allan-Herndon-Dudley syndrome, OMIM:300523;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease;Monocarboxylate transporter 8 deficiency (MCT8) Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524 False 3 100;0;0 1.186 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_634 False 3 100;0;0 1.186 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC25A12 gene SLC25A12 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hypomyelination, global cerebral 612949" 27290639;25655951;19641205;24515575 False 3 100;0;0 1.186 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A4 gene SLC25A4 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283" 25655951;27693233;30013777;12112115 False 3 100;0;0 1.186 False ENSG00000151729 ENSG00000151729 HGNC:10990 SNORD118 gene SNORD118 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 614561;Leukoencephalopathy, brain calcifications and cysts, 614561 27571260;28177126 False 3 50;50;0 1.186 False Other - please provide details in the comments ENSG00000200463 ENSG00000200463 HGNC:32952 SOX10 gene SOX10 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown General Leukodystrophy & Mitochondrial Leukoencephalopathy;peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy;PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 25655951 False 3 100;0;0 1.186 False ENSG00000100146 ENSG00000100146 HGNC:11190 SPART gene SPART Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, OMIM:275900 27112432;18413476;26003402;12134148;28875386;15372254;31535723 False 3 100;0;0 1.186 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPG7 gene SPG7 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586;20186691;22571692 False 3 100;0;0 1.186 False ENSG00000197912 ENSG00000197912 HGNC:11237 SUCLA2 gene SUCLA2 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_575 False 3 100;0;0 1.186 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUMF1 gene SUMF1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Multiple sulfatase deficiency Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_628 False 3 100;0;0 1.186 False ENSG00000144455 ENSG00000144455 HGNC:20376 SURF1 gene SURF1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorder;Leigh syndrome, due to COX IV deficiency Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_560 False 3 100;0;0 1.186 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy 25655951;27319982 - mouse model with a missense variant causing loss of the translational activator of TACO1 have isolated complex IV deficiency;20727754 and 19503089 (same patients) False 3 100;0;0 1.186 False ENSG00000136463 ENSG00000136463 HGNC:24316 TMEM106B gene TMEM106B Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;30643851;32595021 False 3 100;0;0 1.186 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TREX1 gene TREX1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Inherited white matter disorders White matter disorders 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;General Leukodystrophy & Mitochondrial Leukoencephalopathy" 25655951;27411419 False 3 100;0;0 1.186 False ENSG00000213689 ENSG00000213689 HGNC:12269 TUBB4A gene TUBB4A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 4, torsion, autosomal dominant, 128101;Leukodystrophy, hypomyelinating, 6, 612438;Leukodystrophy, hypomyelinating 6;General Leukodystrophy & Mitochondrial Leukoencephalopathy 25655951 False 3 100;0;0 1.186 False ENSG00000104833 ENSG00000104833 HGNC:20774 TWNK gene TWNK Expert list;Expert Review Green;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 7 25655951 False 3 0;0;0 1.186 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type) 25655951 False 3 100;0;0 1.186 False ENSG00000025708 ENSG00000025708 HGNC:3148 VPS11 gene VPS11 Expert list;Expert Review Green Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12, OMIM:616683 26307567;27120463;27473128 False 3 100;0;0 1.186 False ENSG00000160695 ENSG00000160695 HGNC:14583 ATP11A gene ATP11A Expert Review Amber;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 24, OMIM:619851 34403372;39432785 False 2 50;50;0 1.186 False ENSG00000068650 ENSG00000068650 HGNC:13552 ATPAF2 gene ATPAF2 Expert list;Expert Review Amber Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Mitochondrial complex V disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy 14757859;25655951;21815885 (no variants identified) False 2 100;0;0 1.186 False ENSG00000171953 ENSG00000171953 HGNC:18802 COQ9 gene COQ9 Expert list;Expert Review Amber Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy;Coenzyme Q10 deficiency, primary, 5;General Leukodystrophy & Mitochondrial Leukoencephalopathy 19375058;25655951 False 2 100;0;0 1.186 False ENSG00000088682 ENSG00000088682 HGNC:25302 MAL gene MAL Expert Review Amber;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal developmental delay;nystagmus;progressive motor deterioration;dysmyelination 35217805 False 2 0;100;0 1.186 False ENSG00000172005 ENSG00000172005 HGNC:6817 MRPS16 gene MRPS16 Expert list;Expert Review Amber Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy 15505824;25655951;18539099 False 2 50;50;0 1.186 False ENSG00000182180 ENSG00000182180 HGNC:14048 PEX14 gene PEX14 Expert list;Expert Review Amber Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 15146459 False 2 0;100;0 1.186 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX19 gene PEX19 Expert list;Expert Review Amber Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 12A (Zellweger) 614886" 20683989 False 2 0;100;0 1.186 False ENSG00000162735 ENSG00000162735 HGNC:9713 POLR3K gene POLR3K Expert Review Amber;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 21, OMIM:619310 30584594;33659930 False 2 0;100;0 1.186 False ENSG00000161980 ENSG00000161980 HGNC:14121 TUFM gene TUFM Expert list;Expert Review Amber Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Leukoencephalopathy 25655951;17160893 (case report);25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency. False 2 100;0;0 1.186 False ENSG00000178952 ENSG00000178952 HGNC:12420