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 Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 Cerebral calcification;HP:0002514 21217755;21217752 False 3 100;0;0 1.99 True ENSG00000102575 ENSG00000102575 HGNC:124 ACVR1 gene ACVR1 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva, MIM# 135100 Cerebral calcification;HP:0002514 27565519 False 3 100;0;0 1.99 True ENSG00000115170 ENSG00000115170 HGNC:171 ADAR gene ADAR Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM#615010 Cerebral calcification;HP:0002514 23001123;24262145;23001123;30692772 False 3 100;0;0 1.99 True ENSG00000160710 ENSG00000160710 HGNC:225 AP1S2 gene AP1S2 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 Cerebral calcification;HP:0002514 19161147;17617514 False 3 100;0;0 1.99 True ENSG00000182287 ENSG00000182287 HGNC:560 CA2 gene CA2 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730 Cerebral calcification;HP:0002514 25674028 False 3 100;0;0 1.99 True ENSG00000104267 ENSG00000104267 HGNC:1373 CASR gene CASR Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant, MIM# 601198 Cerebral calcification;HP:0002514 32775520;35402765;8733126;8813042 False 3 50;0;50 1.99 True ENSG00000036828 ENSG00000036828 HGNC:1514 CLDN5 gene CLDN5 Expert Review Green;Literature Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disorder, MONDO:0002254, CLDN5-related Cerebral calcification;HP:0002514 35714222;36477332 False 3 50;50;0 1.99 True ENSG00000184113 ENSG00000184113 HGNC:2047 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease with or without ocular anomalies, MIM# 175780 Cerebral calcification;HP:0002514 24372060;22134833;25719457;23225343;22932948 False 3 100;0;0 1.99 True ENSG00000187498 ENSG00000187498 HGNC:2202 COLGALT1 gene COLGALT1 Expert Review Green;Literature Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3 MIM#618360 Cerebral calcification;HP:0002514 30412317;33709034;31759980 False 3 100;0;0 1.99 True ENSG00000130309 ENSG00000130309 HGNC:26182 CTC1 gene CTC1 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Cerebral calcification;HP:0002514 22267198;22387016;22532422;22899577;24372060 False 3 100;0;0 1.99 True ENSG00000178971 ENSG00000178971 HGNC:26169 CYP2U1 gene CYP2U1 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 56, autosomal recessive, MIM# 615030" Cerebral calcification;HP:0002514 30111349;33107650;23176821 False 3 100;0;0 1.99 True ENSG00000155016 ENSG00000155016 HGNC:20582 ECM1 gene ECM1 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Urbach-Wiethe disease, MIM# 247100 Cerebral calcification;HP:0002514 27398129;26336196;12603844 False 3 100;0;0 1.99 True ENSG00000143369 ENSG00000143369 HGNC:3153 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, MIM#133540 Cerebral calcification;HP:0002514 17092472;20522568 False 3 100;0;0 1.99 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400 Cerebral calcification;HP:0002514 26204423;17092472;20522568 False 3 100;0;0 1.99 True ENSG00000049167 ENSG00000049167 HGNC:3439 ESAM gene ESAM Expert Review Green;Literature Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Cerebral calcification;HP:0002514 36996813 False 3 100;0;0 1.99 True ENSG00000149564 ENSG00000149564 HGNC:17474 FAM111A gene FAM111A Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kenny-Caffey syndrome, type 2, MIM# 127000 Cerebral calcification;HP:0002514 32734340;23996431;35205306 False 3 100;0;0 1.99 True ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20C gene FAM20C Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM# 259775 Cerebral calcification;HP:0002514 27862258;20825432;36914045;34259997;32299476;29341424 False 3 50;0;50 1.99 True ENSG00000177706 ENSG00000177706 HGNC:22140 FARSA gene FARSA Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Rajab interstitial lung disease with brain calcifications 2, MIM# 619013" Cerebral calcification;HP:0002514 31355908;33598926 False 3 67;0;33 1.99 True ENSG00000179115 ENSG00000179115 HGNC:3592 FARSB gene FARSB Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rajab syndrome, MIM#613658;interstitial lung disease;brain calcifications;microcephaly;intellectual disability Cerebral calcification;HP:0002514 29573043;19161147;29979980;30014610 False 3 100;0;0 1.99 True ENSG00000116120 ENSG00000116120 HGNC:17800 GALC gene GALC Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Krabbe disease, MIM# 245200" Cerebral calcification;HP:0002514 False 3 100;0;0 1.99 True ENSG00000054983 ENSG00000054983 HGNC:4115 GATA3 gene GATA3 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Cerebral calcification;HP:0002514 32642802;19248180;26268891;16912130;15337474 False 3 100;0;0 1.99 True ENSG00000107485 ENSG00000107485 HGNC:4172 GCM2 gene GCM2 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoparathyroidism, familial isolated 2, MIM# 618883 Cerebral calcification;HP:0002514 32642802;19940031;36405867;18583467 False 3 100;0;0 1.99 True ENSG00000124827 ENSG00000124827 HGNC:4198 GJA1 gene GJA1 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, MIM# 164200 Cerebral calcification;HP:0002514 26444782;31023660;31240666 False 3 100;0;0 1.99 True ENSG00000152661 ENSG00000152661 HGNC:4274 GNAS gene GNAS Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ib, MIM# 603233 Cerebral calcification;HP:0002514 28296742;35600030;20444925 False 3 100;0;0 1.99 True ENSG00000087460 ENSG00000087460 HGNC:4392 IFIH1 gene IFIH1 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, MIM#615846 Cerebral calcification;HP:0002514 24686847 False 3 100;0;0 1.99 True ENSG00000115267 ENSG00000115267 HGNC:18873 ISG15 gene ISG15 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38 with BG calcification, MIM# 616126 Cerebral calcification;HP:0002514 25307056;32944031 False 3 100;0;0 1.99 True ENSG00000187608 ENSG00000187608 HGNC:4053 JAM2 gene JAM2 Expert Review Green;Literature Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Primary brain calcification Cerebral calcification;HP:0002514 31851307 False 3 100;0;0 1.99 True ENSG00000154721 ENSG00000154721 HGNC:14686 JAM3 gene JAM3 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Cerebral calcification;HP:0002514 23255084;21109224 False 3 100;0;0 1.99 True ENSG00000166086 ENSG00000166086 HGNC:15532 KIAA1161 gene KIAA1161 Expert Review Green;Literature Brain Calcification Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, MIM#618317 Cerebral calcification;HP:0002514 30656188;30649222;30460687;29910000;31951047 False 3 100;0;0 1.99 True ENSG00000164976 ENSG00000164976 HGNC:19918 NAA60 gene NAA60 Expert Review Green;Other Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786 Cerebral calcification;HP:0002514 False 3 100;0;0 1.99 True ENSG00000122390 ENSG00000122390 HGNC:25875 NRROS gene NRROS Expert Review Green;Literature Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodegeneration;intracranial calcification;epilepsy Cerebral calcification;HP:0002514 32100099;32197075 False 3 100;0;0 1.99 True ENSG00000174004 ENSG00000174004 HGNC:24613 OCLN gene OCLN Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1, MIM#251290 Cerebral calcification;HP:0002514 20727516;32240828;29192239;28386946 False 3 100;0;0 1.99 True ENSG00000197822 ENSG00000197822 HGNC:8104 PCDH12 gene PCDH12 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Cerebral calcification;HP:0002514 28804758;34773825;30178464 False 3 100;0;0 1.99 True ENSG00000113555 ENSG00000113555 HGNC:8657 PDGFB gene PDGFB Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5 , MIM#615483 Cerebral calcification;HP:0002514 23913003;30952898;30609140 False 3 100;0;0 1.99 True ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4, MIM# 615007;MONDO:0014004 Cerebral calcification;HP:0002514 31004414;30979360;32613555;34494111 False 3 100;0;0 1.99 True ENSG00000113721 ENSG00000113721 HGNC:8804 RNASEH2A gene RNASEH2A Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, MIM# 610333 Cerebral calcification;HP:0002514 17846997;16845400;23592335;27643693 False 3 100;0;0 1.99 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, MIM# 610181 Cerebral calcification;HP:0002514 16845400;33307271;29239743 False 3 100;0;0 1.99 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, MIM# 610329 Cerebral calcification;HP:0002514 16845400;29239743;29150899;27643693 False 3 100;0;0 1.99 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951" Cerebral calcification;HP:0002514 19525954 False 3 100;0;0 1.99 True ENSG00000026297 ENSG00000026297 HGNC:21686 RNU7-1 gene RNU7-1 Expert Review Green;Literature Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, MIM# 619487 Cerebral calcification;HP:0002514 33230297 False 3 100;0;0 1.99 True ENSG00000238923 ENSG00000238923 HGNC:34033 SAMHD1 gene SAMHD1 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM# 612952 Cerebral calcification;HP:0002514 19525956;21102625;33307271 False 3 100;0;0 1.99 True ENSG00000101347 ENSG00000101347 HGNC:15925 SLC20A2 gene SLC20A2 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1, MIM# 213600 Cerebral calcification;HP:0002514 22327515;23334463 False 3 100;0;0 1.99 True ENSG00000168575 ENSG00000168575 HGNC:10947 SLC46A1 gene SLC46A1 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, MIM# 229050 Cerebral calcification;HP:0002514 33146883;28685492;24534056;27938595 False 3 100;0;0 1.99 True ENSG00000076351 ENSG00000076351 HGNC:30521 SNORD118 gene SNORD118 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Cerebral calcification;HP:0002514 27571260;34220662;28177126;34986804 False 3 100;0;0 1.99 True ENSG00000200463 ENSG00000200463 HGNC:32952 STN1 gene STN1 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341" Cerebral calcification;HP:0002514 27432940;32627942;34110109 False 3 100;0;0 1.99 True ENSG00000107960 ENSG00000107960 HGNC:26200 SUOX gene SUOX Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, MIM# 272300 Cerebral calcification;HP:0002514 27289259;23250141;24384336 False 3 100;0;0 1.99 True ENSG00000139531 ENSG00000139531 HGNC:11460 TBCE gene TBCE Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Cerebral calcification;HP:0002514 28138323;35935360 False 3 50;50;0 1.99 True ENSG00000116957 ENSG00000116957 HGNC:11582 TINF2 gene TINF2 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Revesz syndrome, MIM# 268130" Cerebral calcification;HP:0002514 21477109;18252230 False 3 100;0;0 1.99 True ENSG00000092330 ENSG00000092330 HGNC:11824 TREM2 gene TREM2 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193" Cerebral calcification;HP:0002514 12080485;15883308 False 3 100;0;0 1.99 True ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Cerebral calcification;HP:0002514 17846997 False 3 100;0;0 1.99 True ENSG00000213689 ENSG00000213689 HGNC:12269 TSC1 gene TSC1 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 1, MIM# 191100 Cerebral calcification;HP:0002514 False 3 100;0;0 1.99 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 2, MIM# 613254 Cerebral calcification;HP:0002514 21175459;30628968;19258292;28786492 False 3 100;0;0 1.99 True ENSG00000103197 ENSG00000103197 HGNC:12363 TYROBP gene TYROBP Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770" Cerebral calcification;HP:0002514 30242731;11402114 False 3 100;0;0 1.99 True ENSG00000011600 ENSG00000011600 HGNC:12449 USP18 gene USP18 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, MIM# 617397 Cerebral calcification;HP:0002514 31940699;27325888 False 3 100;0;0 1.99 True ENSG00000184979 ENSG00000184979 HGNC:12616 XPR1 gene XPR1 Expert Review Green;Victorian Clinical Genetics Services Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6, MIM# 616413 Cerebral calcification;HP:0002514 25938945;27230854;29955172;33433330 False 3 100;0;0 1.99 True ENSG00000143324 ENSG00000143324 HGNC:12827 ZBTB20 gene ZBTB20 Expert list;Expert Review Green Brain Calcification Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primrose syndrome, MIM# 259050 Cerebral calcification;HP:0002514 32734340;25017102 False 3 100;0;0 1.99 True ENSG00000181722 ENSG00000181722 HGNC:13503