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 AP2S1 gene AP2S1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hypocalciuric hypercalcaemia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypocalciuric hypercalcemia, type III, OMIM:600740 23222959;28176280;24081735;25993639;26082470;33729479 False 3 100;0;0 2.11 False ENSG00000042753 ENSG00000042753 HGNC:565 CASR gene CASR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hypocalciuric hypercalcaemia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypocalciuric hypercalcemia, type I, OMIM:145980 7874174;7916660;19423559;9011580;7717399 False 3 100;0;0 2.11 False ENSG00000036828 ENSG00000036828 HGNC:1514 GNA11 gene GNA11 Expert Review Green;Radboud University Medical Center, Nijmegen Hypocalciuric hypercalcaemia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypocalcemia, autosomal dominant 2, OMIM:615361;Hypocalciuric hypercalcemia, type II, OMIM:145981 23222959;26729423 False 3 100;0;0 2.11 False ENSG00000088256 ENSG00000088256 HGNC:4379