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 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000205336 ENSG00000205336 HGNC:4512 ARX gene ARX Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 300215;Cerebral Malformation Disorders;Lissencephaly, X-linked 2 False 1 0;0;0 7.24 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATP7A gene ATP7A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, MIM#309400 28495946;28495940 False 1 0;0;0 7.24 False ENSG00000165240 ENSG00000165240 HGNC:869 DCX gene DCX Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology 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 7.24 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDB1 gene DDB1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown False 1 0;0;0 7.24 False ENSG00000167986 ENSG00000167986 HGNC:2717 EGR2 gene EGR2 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Neuropathy, congenital hypomyelinating, 1, 605253;Charcot-Marie-Tooth disease,type 1D,607678;Dejerine-Sottas disease,145900 False 1 0;0;0 7.24 False ENSG00000122877 ENSG00000122877 HGNC:3239 ERCC3 gene ERCC3 Expert Review Red;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, OMIM:616390;Xeroderma pigmentosum, group B, OMIM:610651 9012405;2167179;16947863;8408834;8304337 False 1 0;0;100 7.24 False ENSG00000163161 ENSG00000163161 HGNC:3435 GTF2E2 gene GTF2E2 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 26996949 False 1 0;0;0 7.24 False ENSG00000197265 ENSG00000197265 HGNC:4651 HEXA gene HEXA Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal MIM#272800 False 1 0;0;0 7.24 False ENSG00000213614 ENSG00000213614 HGNC:4878 HTRA1 gene HTRA1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY False 1 0;0;0 7.24 False ENSG00000166033 ENSG00000166033 HGNC:9476 MAT1A gene MAT1A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Calcifications in basal ganglia;Methionine adenosyltransferase deficiency, autosomal recessive 8770875 False 1 0;0;0 7.24 False ENSG00000151224 ENSG00000151224 HGNC:6903 MFF gene MFF Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 1 0;0;0 7.24 False ENSG00000168958 ENSG00000168958 HGNC:24858 MPLKIP gene MPLKIP Expert Review Red;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, OMIM:234050 25655951;25290684;26518168;25606444;26880286;29421601;30580289;30598092;16977596;33043633;33729667 False 1 0;0;100 7.24 False ENSG00000168303 ENSG00000168303 HGNC:16002 MPZ gene MPZ Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy,congenital hypomyelinating,605253;Congenital Hypomyelination False 1 0;0;0 7.24 False ENSG00000158887 ENSG00000158887 HGNC:7225 NDE1 gene NDE1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019;Lissencephaly, Recessive;Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDUFA2 gene NDUFA2 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial leukoencephalopathy 28857146 False 1 0;0;0 7.24 False ENSG00000131495 ENSG00000131495 HGNC:7685 OCRL gene OCRL Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, MIM#309000 False 1 0;0;0 7.24 False ENSG00000122126 ENSG00000122126 HGNC:8108 PCDH12 gene PCDH12 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;perithalamic hyperechogenicity;hypothalamic abnormalities;periventricular hyperechogenicity;epilepsy;midbrain abnormalities 27164683 False 1 0;0;0 7.24 False ENSG00000113555 ENSG00000113555 HGNC:8657 PHGDH gene PHGDH Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency, MIM#601815 False 1 0;0;0 7.24 False ENSG00000092621 ENSG00000092621 HGNC:8923 PMP22 gene PMP22 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Neuropathy,inflammatory demyelinating,139393 False 1 0;0;0 7.24 False ENSG00000109099 ENSG00000109099 HGNC:9118 POLH gene POLH Expert Review Red;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, OMIM:278750 23755135;23651273;24260050;27004399;25256075;27664908;24877075;24130121;25128761 False 1 0;0;100 7.24 False ENSG00000170734 ENSG00000170734 HGNC:9181 POLR1A gene POLR1A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 28051070 False 1 0;0;0 7.24 False ENSG00000068654 ENSG00000068654 HGNC:17264 PPT1 gene PPT1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM#256730 False 1 0;0;0 7.24 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRF1 gene PRF1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 23443029 False 1 0;0;0 7.24 False ENSG00000180644 ENSG00000180644 HGNC:9360 RELN gene RELN Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly, Recessive;Lissencephaly 2;Lissencephaly 2 (Norman-Roberts type), 257320 False 1 0;0;0 7.24 False ENSG00000189056 ENSG00000189056 HGNC:9957 RNF113A gene RNF113A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 25612912 False 1 0;0;0 7.24 False ENSG00000125352 ENSG00000125352 HGNC:12974 SCN2A gene SCN2A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 PMID:24579881 False 1 0;0;0 7.24 False ENSG00000136531 ENSG00000136531 HGNC:10588 SDHD gene SDHD Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency False 1 0;0;0 7.24 False ENSG00000204370 ENSG00000204370 HGNC:10683 SLC13A5 gene SLC13A5 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905 27913086 False 1 0;0;0 7.24 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC25A1 gene SLC25A1 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Global Cerebral Hypomyelination False 1 0;0;0 7.24 False ENSG00000100075 ENSG00000100075 HGNC:10979 SPG7 gene SPG7 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586, 20186691;22571692 False 1 0;0;0 7.24 False ENSG00000197912 ENSG00000197912 HGNC:11237 TUBA1A gene TUBA1A Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3;Lissencephaly, Dominant;Cerebral Malformation Disorders;Lissencephaly 3, 611603 False 1 0;0;0 7.24 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB2B gene TUBB2B Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology Unknown Cerebral Malformation Disorders False 1 0;0;0 7.24 False ENSG00000137285 ENSG00000137285 HGNC:30829 TYROBP gene TYROBP Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease, MIM#221770 False 1 0;0;0 7.24 False ENSG00000011600 ENSG00000011600 HGNC:12449 UNC13D gene UNC13D Expert Review Red White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal 29312353 False 1 0;0;0 7.24 False ENSG00000092929 ENSG00000092929 HGNC:23147