{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7167","gene_name":"matrix metallopeptidase 20","omim_gene":["604629"],"alias_name":["enamelysin"],"gene_symbol":"MMP20","hgnc_symbol":"MMP20","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:102447566-102496063","ensembl_id":"ENSG00000137674"}},"GRch38":{"90":{"location":"11:102576835-102625332","ensembl_id":"ENSG00000137674"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"MMP20","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28473773","15744043","18096894","26502894","23625376","23355523","16246936","19966041","26124219","28659819"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Amelogenesis imperfecta, type IIA2, 612529","Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529","Amelogenesis Imperfecta, Recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":269,"hash_id":"58c7f3c78f620328d77ce70e","name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T13:55:51.137280Z","relevant_disorders":["Amelogenesis Imperfecta","R340"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}
