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 AMTN gene AMTN Expert Review Amber;Literature Amelogenesis imperfecta Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amelogenesis imperfecta;dominant hypomineralised AI;Amelogenesis imperfecta, hypomaturation type;?Amelogenesis imperfecta, type IIIB, 617607" 27412008 False 2 0;0;100 3.3 False ENSG00000187689 ENSG00000187689 HGNC:33188 CLDN16 gene CLDN16 Expert Review Amber;Literature Amelogenesis imperfecta Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) 26426912 False 2 0;0;0 3.3 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Amber;Literature Amelogenesis imperfecta Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) 27530400 False 2 0;0;0 3.3 False ENSG00000164007 ENSG00000164007 HGNC:2040 ITGB4 gene ITGB4 Eligibility statement prior genetic testing;Expert Review Amber;UKGTN Amelogenesis imperfecta Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis Imperfecta;Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia);Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting) False 2 0;0;0 3.3 False ENSG00000132470 ENSG00000132470 HGNC:6158 LAMC2 gene LAMC2 Eligibility statement prior genetic testing;Expert Review Amber;UKGTN Amelogenesis imperfecta Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amelogenesis Imperfecta;Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650 26956061 False 2 0;0;100 3.3 False ENSG00000058085 ENSG00000058085 HGNC:6493