{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CDC54","hCdc21","P1-Cdc21","MGC33310"],"biotype":"protein_coding","hgnc_id":"HGNC:6947","gene_name":"minichromosome maintenance complex component 4","omim_gene":["602638"],"alias_name":null,"gene_symbol":"MCM4","hgnc_symbol":"MCM4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:48872745-48890720","ensembl_id":"ENSG00000104738"}},"GRch38":{"90":{"location":"8:47960185-47978160","ensembl_id":"ENSG00000104738"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"MCM4","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22354167","22354170"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Ideopathic Primary Adrenal Failure","Congenital Adrenal Hypoplasia","autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency"],"mode_of_inheritance":"","tags":["founder-effect"],"panel":{"id":145,"hash_id":"55bf785822c1fc0fe45530bf","name":"Congenital adrenal hypoplasia","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","status":"public","version":"2.0","version_created":"2019-07-31T14:08:52.172447Z","relevant_disorders":["R150"],"stats":{"number_of_genes":20,"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 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":["CDC54","hCdc21","P1-Cdc21","MGC33310"],"biotype":"protein_coding","hgnc_id":"HGNC:6947","gene_name":"minichromosome maintenance complex component 4","omim_gene":["602638"],"alias_name":null,"gene_symbol":"MCM4","hgnc_symbol":"MCM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:48872745-48890720","ensembl_id":"ENSG00000104738"}},"GRch38":{"90":{"location":"8:47960185-47978160","ensembl_id":"ENSG00000104738"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"MCM4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22354167","22354170","22499342","16532402"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Immunodeficiency 54, 609981","Natural killer cell and glucocorticoid deficiency with DNA repair defect","Predisposition to several viral infection","MCM4 deficiency","NK cells: low number and function. Viral infections (EBV, HSV, VZV),  short stature, B cell lymphoma, adrenal failure","Combined immunodeficiencies with associated or syndromic features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder-effect"],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"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."}]}},{"gene_data":{"alias":["CDC54","hCdc21","P1-Cdc21","MGC33310"],"biotype":"protein_coding","hgnc_id":"HGNC:6947","gene_name":"minichromosome maintenance complex component 4","omim_gene":["602638"],"alias_name":null,"gene_symbol":"MCM4","hgnc_symbol":"MCM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:48872745-48890720","ensembl_id":"ENSG00000104738"}},"GRch38":{"90":{"location":"8:47960185-47978160","ensembl_id":"ENSG00000104738"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"MCM4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}}]}