{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:467","gene_name":"Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1","omim_gene":["300195"],"alias_name":null,"gene_symbol":"AMMECR1","hgnc_symbol":"AMMECR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:109437414-109683461","ensembl_id":"ENSG00000101935"}},"GRch38":{"90":{"location":"X:110194186-110440233","ensembl_id":"ENSG00000101935"}}},"hgnc_date_symbol_changed":"1998-06-22"},"entity_type":"gene","entity_name":"AMMECR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29193635","28089922","27811305"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Short stature","Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}}]}