{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MCT12"],"biotype":"protein_coding","hgnc_id":"HGNC:23094","gene_name":"solute carrier family 16 member 12","omim_gene":["611910"],"alias_name":["monocarboxylic acid transporter 12"],"gene_symbol":"SLC16A12","hgnc_symbol":"SLC16A12","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:91190051-91316398","ensembl_id":"ENSG00000152779"}},"GRch38":{"90":{"location":"10:89430299-89556641","ensembl_id":"ENSG00000152779"}}},"hgnc_date_symbol_changed":"2003-09-24"},"entity_type":"gene","entity_name":"SLC16A12","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["Kloeckener-Gruissem et al (2008) Am J Hum Genet 82:772-779 - a nonsense variant in SLC16A12 was identified in a Swiss family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria. High SLC16A12 transcript expression levels in the eye and kidney was observed","Functional study: Castorino et al (2011) IOVS 52:6774 PMID: 21778275 - reports the variant causes a defect in protein trafficking","A 5'UTR SNP was identified in one patient with age-related cataract, and caused increased expression in luciferase assays PMID: 20181839"],"evidence":["Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cataract, juvenile, with microcornea and glucosuria, 612018"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare 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variants","disease_group":"","disease_sub_group":"","status":"public","version":"0.8","version_created":"2019-07-09T15:48:14.145108Z","relevant_disorders":[],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Submitted List","slug":"submitted-list","description":"Original list, ratings, comments submitted to PanelApp- generally used for the creation of reference GMS panels, these panels  should be internal only"}]}}]}