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 ATN1 gene ATN1 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Dentatorubral-pallidoluysian atrophy, MIM# 125370" Cerebral calcification;HP:0002514 2742549 False 1 0;0;100 1.99 True ENSG00000111676 ENSG00000111676 HGNC:3033 BTD gene BTD Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, MIM# 253260 Cerebral calcification;HP:0002514 32734340;3399084 False 1 0;0;100 1.99 True ENSG00000169814 ENSG00000169814 HGNC:1122 C1QB gene C1QB Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 Cerebral calcification;HP:0002514 23651859 False 1 0;0;100 1.99 False ENSG00000173369 ENSG00000173369 HGNC:1242 COASY gene COASY Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 6, MIM# 615643" Cerebral calcification;HP:0002514 27487380;24360804 False 1 0;0;100 1.99 True ENSG00000068120 ENSG00000068120 HGNC:29932 COL4A2 gene COL4A2 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM# 614483 Cerebral calcification;HP:0002514 33577044;33247988 False 1 0;0;100 1.99 True ENSG00000134871 ENSG00000134871 HGNC:2203 DENND5A gene DENND5A Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 49, MIM# 617281 Cerebral calcification;HP:0002514 32734340;27866705 False 1 0;0;100 1.99 True ENSG00000184014 ENSG00000184014 HGNC:19344 ERCC3 gene ERCC3 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B, MIM# 610651 Cerebral calcification;HP:0002514 16947863;20301571 False 1 0;0;100 1.99 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G;Cockayne syndrome, MIM# 278780 Cerebral calcification;HP:0002514 20301571;26884178 False 1 0;0;100 1.99 True ENSG00000134899 ENSG00000134899 HGNC:3437 FOLR1 gene FOLR1 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068" Cerebral calcification;HP:0002514 24556562;27378809 False 1 0;0;100 1.99 True ENSG00000110195 ENSG00000110195 HGNC:3791 GNA11 gene GNA11 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant 2, MIM# 615361 Cerebral calcification;HP:0002514 27334330 False 1 0;0;100 1.99 True ENSG00000088256 ENSG00000088256 HGNC:4379 LSM11 gene LSM11 Expert Review Red;Literature Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8, MIM# 619486 Cerebral calcification;HP:0002514 PMID: 33230297 False 1 0;0;100 1.99 True ENSG00000155858 ENSG00000155858 HGNC:30860 MT-ATP6 gene MT-ATP6 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders MITOCHONDRIAL Leigh syndrome, MONDO:0009723 Cerebral calcification;HP:0002514 32042910;29929013 False 1 0;0;100 1.99 True ENSG00000198899 ENSG00000198899 HGNC:7414 PLXNA1 gene PLXNA1 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Cerebral calcification;HP:0002514 34054129 False 1 0;0;100 1.99 True ENSG00000114554 ENSG00000114554 HGNC:9099 PSMB8 gene PSMB8 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040 Cerebral calcification;HP:0002514 28895430;23768303 False 1 0;0;100 1.99 True ENSG00000204264 ENSG00000204264 HGNC:9545 PSMG2 gene PSMG2 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Proteasome-associated autoinflammatory syndrome 4, MIM# 619183" Cerebral calcification;HP:0002514 30664889 False 1 0;0;100 1.99 False ENSG00000128789 ENSG00000128789 HGNC:24929 PTH gene PTH Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoparathyroidism, familial isolated 1, MIM# 146200 Cerebral calcification;HP:0002514 29383229 False 1 0;0;100 1.99 True ENSG00000152266 ENSG00000152266 HGNC:9606 PTS gene PTS Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Cerebral calcification;HP:0002514 16601879;32734340 False 1 0;0;100 1.99 True ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676 Cerebral calcification;HP:0002514 2135679 False 1 0;0;100 1.99 True ENSG00000151552 ENSG00000151552 HGNC:9752 RAB39B gene RAB39B Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 72, MIM# 300271 Cerebral calcification;HP:0002514 27943471 False 1 0;0;100 1.99 True ENSG00000155961 ENSG00000155961 HGNC:16499 TBC1D20 gene TBC1D20 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, MIM# 615663 Cerebral calcification;HP:0002514 32740904 False 1 0;0;100 1.99 True ENSG00000125875 ENSG00000125875 HGNC:16133 TRPM6 gene TRPM6 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, MIM# 602014 Cerebral calcification;HP:0002514 22982920 False 1 0;0;100 1.99 True ENSG00000119121 ENSG00000119121 HGNC:17995 VARS2 gene VARS2 Expert list;Expert Review Red Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20, MIM# 615917 Cerebral calcification;HP:0002514 29314548 False 1 0;0;100 1.99 True ENSG00000137411 ENSG00000137411 HGNC:21642