{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["hGCMb"],"biotype":"protein_coding","hgnc_id":"HGNC:4198","gene_name":"glial cells missing homolog 2","omim_gene":["603716"],"alias_name":null,"gene_symbol":"GCM2","hgnc_symbol":"GCM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:10873456-10882174","ensembl_id":"ENSG00000124827"}},"GRch38":{"90":{"location":"6:10873223-10881941","ensembl_id":"ENSG00000124827"}}},"hgnc_date_symbol_changed":"2002-09-27"},"entity_type":"gene","entity_name":"GCM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18712808","22066718","20463099","20190276"],"evidence":["Expert Review Green","Expert list","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypoparathyroidism, familial isolated, 146200"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":312,"hash_id":"55bf826222c1fc0fe45530c1","name":"Familial hypoparathyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of calcium homeostasis","status":"public","version":"2.0","version_created":"2019-09-23T12:02:24.842989Z","relevant_disorders":["Familial or syndromic hypoparathyroidism","R153"],"stats":{"number_of_genes":9,"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 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."},{"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."}]}},{"gene_data":{"alias":["hGCMb"],"biotype":"protein_coding","hgnc_id":"HGNC:4198","gene_name":"glial cells missing homolog 2","omim_gene":["603716"],"alias_name":null,"gene_symbol":"GCM2","hgnc_symbol":"GCM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:10873456-10882174","ensembl_id":"ENSG00000124827"}},"GRch38":{"90":{"location":"6:10873223-10881941","ensembl_id":"ENSG00000124827"}}},"hgnc_date_symbol_changed":"2002-09-27"},"entity_type":"gene","entity_name":"GCM2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27745835","29264504","14715834","29199197"],"evidence":["Expert Review Amber","Literature","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypoparathyroidism, familial isolated (146200)","Hyperparathyroidism 4 (617343)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":480,"hash_id":null,"name":"Familial hyperparathyroidism","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-09-10T17:12:48.944602Z","relevant_disorders":["R151"],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"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."},{"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."},{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["hGCMb"],"biotype":"protein_coding","hgnc_id":"HGNC:4198","gene_name":"glial cells missing homolog 2","omim_gene":["603716"],"alias_name":null,"gene_symbol":"GCM2","hgnc_symbol":"GCM2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:10873456-10882174","ensembl_id":"ENSG00000124827"}},"GRch38":{"90":{"location":"6:10873223-10881941","ensembl_id":"ENSG00000124827"}}},"hgnc_date_symbol_changed":"2002-09-27"},"entity_type":"gene","entity_name":"GCM2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red","Other","UKGTN"],"phenotypes":["Hypoparathyroidism, familial isolated (AD)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":78,"hash_id":"568e87e022c1fc1c79ca1754","name":"Holoprosencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"1.23","version_created":"2019-09-30T12:37:25.593251Z","relevant_disorders":["Rhombencephalosynapsis","Holoprosencephaly - NOT chromosomal; R85"],"stats":{"number_of_genes":18,"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 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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}