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 ACP5 gene ACP5 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation;Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia 21217755;21217752;26951490 False 3 100;0;0 1.37 False ENSG00000102575 ENSG00000102575 HGNC:124 ADAR gene ADAR Eligibility statement prior genetic testing;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 25604658;23001123 False 3 100;0;0 1.37 False ENSG00000160710 ENSG00000160710 HGNC:225 AP1S2 gene AP1S2 Emory Genetics Laboratory;Expert Review Green Intracerebral calcification disorders Parenchymal brain 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) Pettigrew syndrome, OMIM:304340;Calcifications in basal ganglia 10398241;17186471;17617514;18428203;22210230;23756445;30383884;30714330 False 3 0;0;0 1.37 False ENSG00000182287 ENSG00000182287 HGNC:560 COL4A1 gene COL4A1 Expert list;Expert Review Green Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porencephaly 1;Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification 22134833 False 3 100;0;0 1.37 False ENSG00000187498 ENSG00000187498 HGNC:2202 CTC1 gene CTC1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, 612199;Coats Plus syndrome 22267198;22387016 False 3 100;0;0 1.37 False ENSG00000178971 ENSG00000178971 HGNC:26169 CYP2U1 gene CYP2U1 Expert list;Expert Review Green Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive False 3 100;0;0 1.37 False ENSG00000155016 ENSG00000155016 HGNC:20582 FARSA gene FARSA Expert Review Green;Literature Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 31355908;33598926 False 3 0;0;100 1.37 False ENSG00000179115 ENSG00000179115 HGNC:3592 FARSB gene FARSB Expert list;Expert Review Green Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rajab syndrome, MIM#613658;interstitial lung disease;brain calcifications;microcephaly;intellectual disability 29573043;19161147;29979980;30014610 False 3 100;0;0 1.37 False ENSG00000116120 ENSG00000116120 HGNC:17800 IFIH1 gene IFIH1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;UKGTN Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, OMIM:615846 24686847;25604658; 24995871 False 3 100;0;0 1.37 False ENSG00000115267 ENSG00000115267 HGNC:18873 JAM2 gene JAM2 Expert Review Green;Literature Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Primary brain calcification 31851307 False 3 100;0;0 1.37 False ENSG00000154721 ENSG00000154721 HGNC:14686 JAM3 gene JAM3 Expert Review Green;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 False 3 0;0;0 1.37 False ENSG00000166086 ENSG00000166086 HGNC:15532 KIAA1161 gene KIAA1161 Expert Review Green;Literature Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Primary Familial Brain Calcification;Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 29910000;30589467;30656188;30649222;31009047 False 3 100;0;0 1.37 False ENSG00000164976 ENSG00000164976 HGNC:19918 NRROS gene NRROS Expert Review Green;Literature Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, early-onset, with neurodegeneration and brain calcification 618875 32100099;32197075;28459434 False 3 100;0;0 1.37 False ENSG00000174004 ENSG00000174004 HGNC:24613 OCLN gene OCLN Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band-like calcification with simplified gyration and polymicrogyria;Band-like calcification with simplified gyration and polymicrogyria, 251290;Severe developmental delay with microcephaly 20727516;26689621;24668585;23793442 False 3 100;0;0 1.37 False ENSG00000197822 ENSG00000197822 HGNC:8104 PDGFB gene PDGFB Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 5, 615483;Fahr syndrome 27227165 - c.3G>C variant identified in 5 affected members of a family;26129893;25211641 False 3 100;0;0 1.37 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification idiopathic 4, 615007;Calcifications in basal ganglia;Fahr syndrome 23255827 - original family report and sproadic case report;26129893;26599395 - mouse models and functional studies;25292412 - functional studies;24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation False 3 100;0;0 1.37 False ENSG00000113721 ENSG00000113721 HGNC:8804 RNASEH2A gene RNASEH2A Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;UKGTN Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4;Aicardi-Goutieres Syndrome 25604658 False 3 100;0;0 1.37 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;UKGTN Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 25604658 False 3 100;0;0 1.37 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;UKGTN Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3;Aicardi-Goutieres Syndrome 25604658 False 3 100;0;0 1.37 False ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome;Aicardi-Goutieres Syndrome 25604658 False 3 100;0;0 1.37 False ENSG00000101347 ENSG00000101347 HGNC:15925 SLC20A2 gene SLC20A2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 1, 213600;Familial Idiopathic Basal Ganglia Calcification;Fahr syndrome 26129893;27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification;27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes False 3 100;0;0 1.37 False ENSG00000168575 ENSG00000168575 HGNC:10947 TINF2 gene TINF2 Expert list;Expert Review Green Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Revesz syndrome, 268130 28095086;28866069;29749240;30478948 False 3 100;0;0 1.37 False ENSG00000092330 ENSG00000092330 HGNC:11824 TREM2 gene TREM2 Emory Genetics Laboratory;Expert Review Green Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Calcifications in basal ganglia;Nasu-Hakola disease;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) 15883308;12080485 False 3 0;0;0 1.37 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;UKGTN Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive;Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy 25604658 False 3 100;0;0 1.37 False ENSG00000213689 ENSG00000213689 HGNC:12269 USP18 gene USP18 Expert Review Green;Literature Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pseudo-TORCH syndrome PMID: 27325888 False 3 0;0;0 1.37 False ENSG00000184979 ENSG00000184979 HGNC:12616 XPR1 gene XPR1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Intracerebral calcification disorders Parenchymal brain disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification (Fahr syndrome);Basal ganglia calcification, idiopathic, 6, 616413 25938945;27230854 - report of a novel variant in a 41-year old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction False 3 100;0;0 1.37 False ENSG00000143324 ENSG00000143324 HGNC:12827