{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HER3"],"biotype":"protein_coding","hgnc_id":"HGNC:3431","gene_name":"erb-b2 receptor tyrosine kinase 3","omim_gene":["190151"],"alias_name":["human epidermal growth factor receptor 3"],"gene_symbol":"ERBB3","hgnc_symbol":"ERBB3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:56473641-56497289","ensembl_id":"ENSG00000065361"}},"GRch38":{"90":{"location":"12:56079857-56103505","ensembl_id":"ENSG00000065361"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"ERBB3","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17701904","12519750"],"evidence":["Expert Review Amber","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Lethal congenital contractural syndrome 2 607598"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder-effect"],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["HER3"],"biotype":"protein_coding","hgnc_id":"HGNC:3431","gene_name":"erb-b2 receptor tyrosine kinase 3","omim_gene":["190151"],"alias_name":["human epidermal growth factor receptor 3"],"gene_symbol":"ERBB3","hgnc_symbol":"ERBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56473641-56497289","ensembl_id":"ENSG00000065361"}},"GRch38":{"90":{"location":"12:56079857-56103505","ensembl_id":"ENSG00000065361"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"ERBB3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["Hirschprung disease with intestinal pseudo-obstruction","LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["HER3"],"biotype":"protein_coding","hgnc_id":"HGNC:3431","gene_name":"erb-b2 receptor tyrosine kinase 3","omim_gene":["190151"],"alias_name":["human epidermal growth factor receptor 3"],"gene_symbol":"ERBB3","hgnc_symbol":"ERBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56473641-56497289","ensembl_id":"ENSG00000065361"}},"GRch38":{"90":{"location":"12:56079857-56103505","ensembl_id":"ENSG00000065361"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"ERBB3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17709104"],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Lethal congenital contractural syndrome 2, 607598","Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}}]}