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 ABI2 gene ABI2 Expert list;Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40475134 False 2 100;0;0 7.24 False ENSG00000138443 ENSG00000138443 HGNC:24011 ATPAF2 gene ATPAF2 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial Leukoencephalopathy 25655951;14757859;21815885 (no variants identified) False 2 0;0;0 7.24 False ENSG00000171953 ENSG00000171953 HGNC:18802 CCT3 gene CCT3 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034;neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 39480921 False 2 100;0;0 7.24 False ENSG00000163468 ENSG00000163468 HGNC:1616 CNP gene CNP Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal ?Leukodystrophy, hypomyelinating, 20, OMIM:619071 32128616;12590258 False 2 0;100;0 7.24 False ENSG00000173786 ENSG00000173786 HGNC:2158 COQ9 gene COQ9 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Mitochondrial Leukoencephalopathy 25655951;19375058 False 2 0;0;0 7.24 False ENSG00000088682 ENSG00000088682 HGNC:25302 ERCC1 gene ERCC1 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure;23623389 - homozygous missense variant reported in a patient with Cockayne syndrome;21612988;33315086 False 2 0;67;33 7.24 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 1, photosensitive, OMIM:601675 29451896;9758621;11443545;33733458 False 2 0;100;0 7.24 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC4 gene ERCC4 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760;XFE progeroid syndrome, OMIM:610965 23623389;29105242 False 2 0;67;33 7.24 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3 OMIM:616570;Xeroderma pigmentosum, group G/Cockayne syndrome OMIM:278780 8818951;9096355;24700531;11228268;8317483 False 2 0;67;33 7.24 False ENSG00000134899 ENSG00000134899 HGNC:3437 GTF2H5 gene GTF2H5 Expert Review Amber;NHS GMS White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal delayed myelination 24986372;15220921;30359777 False 2 0;67;33 7.24 False ENSG00000272047 ENSG00000272047 HGNC:21157 JAM2 gene JAM2 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824;basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 31851307;32142645 False 2 100;0;0 7.24 False ENSG00000154721 ENSG00000154721 HGNC:14686 LSM7 gene LSM7 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, MONDO:0019046 35047835;39420558 False 2 0;0;100 7.24 False ENSG00000130332 ENSG00000130332 HGNC:20470 MAL gene MAL Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;nystagmus;progressive motor deterioration;dysmyelination 35217805 False 2 0;100;0 7.24 False ENSG00000172005 ENSG00000172005 HGNC:6817 MRE11 gene MRE11 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like severe microcephaly 21227757 False 2 0;0;0 7.24 False ENSG00000020922 ENSG00000020922 HGNC:7230 MRPS16 gene MRPS16 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal General Leukodystrophy & Mitochondrial Leukoencephalopathy;Combined oxidative phosphorylation deficiency 2;Mitochondrial Leukoencephalopathy 18539099;15505824;25655951 False 2 0;0;0 7.24 False ENSG00000182180 ENSG00000182180 HGNC:14048 NDUFV2 gene NDUFV2 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229;Progressive cavitating leukoencephalopathy, MONDO:0015349 33811136 False 2 0;100;0 7.24 False ENSG00000178127 ENSG00000178127 HGNC:7717 PEX14 gene PEX14 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 15146459 False 2 0;0;0 7.24 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX19 gene PEX19 Expert Review Amber White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) False 2 0;0;0 7.24 False ENSG00000162735 ENSG00000162735 HGNC:9713 POLR3K gene POLR3K Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 21, OMIM:619310 30584594;33659930 False 2 0;100;0 7.24 False ENSG00000161980 ENSG00000161980 HGNC:14121 PTPN1 gene PTPN1 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, HP:0001298;dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 10066179;39986310 False 2 100;0;0 7.24 False ENSG00000196396 ENSG00000196396 HGNC:9642 SLC35B2 gene SLC35B2 Expert Review Amber;Literature White matter disorders and cerebral calcification - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Abnormality of the skeletal system;Short long bone;Short stature;Abnormality of epiphysis morphology;Scoliosis;Multiple joint dislocation;Global develpmental delay;Intellectual disability;CNS hypomyelination;Abnormality of the corpus callosum;Cerebral atrophy;Abnormality of the amniotic fluid 35325049 False 2 0;100;0 7.24 False ENSG00000157593 ENSG00000157593 HGNC:16872