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 CASR gene CASR Emory Genetics Laboratory;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcemia, type I, 145980 15331184; 18296474; 2983592 False 2 0;100;0 1.30 False ENSG00000036828 ENSG00000036828 HGNC:1514 ZCCHC8 gene ZCCHC8 Expert Review Amber;Literature Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674 31488579 False 2 0;100;0 1.30 False ENSG00000033030 ENSG00000033030 HGNC:25265