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 ADGRG1 gene ADGRG1 UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders Unknown Cerebral Malformation Disorders False 1 0;0;0 1.186 False ENSG00000205336 ENSG00000205336 HGNC:4512 ARX gene ARX Expert Review Red;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) Cerebral Malformation Disorders;Lissencephaly, X-linked 2;300215 False 1 0;0;0 1.186 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATP7A gene ATP7A Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, MIM#309400 28495946;28495940 False 1 100;0;0 1.186 False ENSG00000165240 ENSG00000165240 HGNC:869 COL4A1 gene COL4A1 Expert Review Red;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIM#607595 False 1 100;0;0 1.186 False ENSG00000187498 ENSG00000187498 HGNC:2202 CYP7B1 gene CYP7B1 Expert Review Red;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, OMIM:270800 19187859;19439420;24117163 False 1 100;0;0 1.186 False ENSG00000172817 ENSG00000172817 HGNC:2652 DCX gene DCX Emory Genetics Laboratory;Expert Review Red;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) Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067 False 1 0;0;0 1.186 False ENSG00000077279 ENSG00000077279 HGNC:2714 EGR2 gene EGR2 Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders Charcot-Marie-Tooth disease,type 1D,607678; Dejerine-Sottas disease,145900; Neuropathy, congenital hypomyelinating, 1, 605253 False 1 0;0;0 1.186 False ENSG00000122877 ENSG00000122877 HGNC:3239 ERCC2 gene ERCC2 Expert Review Red;Literature Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MIM#601675 False 1 100;0;0 1.186 False ENSG00000104884 ENSG00000104884 HGNC:3434 FA2H gene FA2H Expert Review;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MIM#612319 False 1 100;0;0 1.186 False ENSG00000103089 ENSG00000103089 HGNC:21197 HEXA gene HEXA Expert Review;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MIM#272800 False 1 100;0;0 1.186 False ENSG00000213614 ENSG00000213614 HGNC:4878 HMBS gene HMBS Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 27558376, 27271711 False 1 100;0;0 1.186 False ENSG00000256269 ENSG00000256269 HGNC:4982 HTRA1 gene HTRA1 UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY False 1 100;0;0 1.186 False ENSG00000166033 ENSG00000166033 HGNC:9476 JAM3 gene JAM3 Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 False 1 0;0;100 1.186 False ENSG00000166086 ENSG00000166086 HGNC:15532 MFF gene MFF Expert Review Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 1 50;0;50 1.186 False ENSG00000168958 ENSG00000168958 HGNC:24858 MPZ gene MPZ Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Hypomyelination;Neuropathy,congenital hypomyelinating,605253 False 1 0;0;0 1.186 False ENSG00000158887 ENSG00000158887 HGNC:7225 NDE1 gene NDE1 Expert Review Red;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 Cerebral Malformation Disorders;Lissencephaly, Recessive;Lissencephaly 4 (with microcephaly), 614019 False 1 0;0;0 1.186 False ENSG00000072864 ENSG00000072864 HGNC:17619 NOTCH3 gene NOTCH3 UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 False 1 100;0;0 1.186 False ENSG00000074181 ENSG00000074181 HGNC:7883 OCRL gene OCRL Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, MIM#309000 False 1 100;0;0 1.186 False ENSG00000122126 ENSG00000122126 HGNC:8108 PHGDH gene PHGDH Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency, MIM#601815 False 1 100;0;0 1.186 False ENSG00000092621 ENSG00000092621 HGNC:8923 PMP22 gene PMP22 Radboud University Medical Center, Nijmegen Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders Neuropathy,inflammatory demyelinating,139393 False 1 0;0;0 1.186 False ENSG00000109099 ENSG00000109099 HGNC:9118 POLR1A gene POLR1A Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 28051070 False 1 0;100;0 1.186 False ENSG00000068654 ENSG00000068654 HGNC:17264 PPT1 gene PPT1 Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM#256730 False 1 100;0;0 1.186 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRF1 gene PRF1 Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 23443029 False 1 0;0;100 1.186 False ENSG00000180644 ENSG00000180644 HGNC:9360 RELN gene RELN Emory Genetics Laboratory;Expert Review Red;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 Lissencephaly, Recessive;Lissencephaly 2;Lissencephaly 2 (Norman-Roberts type), 257320 False 1 0;0;0 1.186 False ENSG00000189056 ENSG00000189056 HGNC:9957 SDHD gene SDHD Emory Genetics Laboratory;Expert Review Red;Literature;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" 24367056; 22972948 False 1 0;0;100 1.186 False ENSG00000204370 ENSG00000204370 HGNC:10683 SLC13A5 gene SLC13A5 Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905 27913086 False 1 100;0;0 1.186 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC25A1 gene SLC25A1 Illumina TruGenome Clinical Sequencing Services Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Global Cerebral Hypomyelination False 1 0;0;0 1.186 False ENSG00000100075 ENSG00000100075 HGNC:10979 SON gene SON Other Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZTTK SYNDROME False 1 0;0;0 1.186 False ENSG00000159140 ENSG00000159140 HGNC:11183 SPG11 gene SPG11 Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paralplegia 11, autosomal recessive, MIM#604360 14745065 False 1 100;0;0 1.186 False ENSG00000104133 ENSG00000104133 HGNC:11226 TREM2 gene TREM2 UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY False 1 100;0;0 1.186 False ENSG00000095970 ENSG00000095970 HGNC:17761 TUBA1A gene TUBA1A Expert Review Red;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 Cerebral Malformation Disorders;Lissencephaly 3;Lissencephaly, Dominant;Lissencephaly 3, 611603 False 1 0;0;0 1.186 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders Cerebral Malformation Disorders False 1 0;0;100 1.186 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB2B gene TUBB2B UKGTN Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders Cerebral Malformation Disorders False 1 0;0;100 1.186 False ENSG00000137285 ENSG00000137285 HGNC:30829 TYROBP gene TYROBP Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease, MIM#221770 False 1 100;0;0 1.186 False ENSG00000011600 ENSG00000011600 HGNC:12449 UNC13D gene UNC13D Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 29312353 False 1 0;0;100 1.186 False ENSG00000092929 ENSG00000092929 HGNC:23147 ZFYVE26 gene ZFYVE26 Expert list;Expert Review Red Inherited white matter disorders White matter disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, MIM#270700 False 1 100;0;0 1.186 False ENSG00000072121 ENSG00000072121 HGNC:20761