{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7432","gene_name":"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","omim_gene":["172460"],"alias_name":null,"gene_symbol":"MTHFD1","hgnc_symbol":"MTHFD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:64854749-64926722","ensembl_id":"ENSG00000100714"}},"GRch38":{"90":{"location":"14:64388031-64463457","ensembl_id":"ENSG00000100714"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"MTHFD1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Other"],"phenotypes":["Susceptibility to spina bifida"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":11,"hash_id":"57e3df7e8f62034b82c0d332","name":"Familial Neural Tube Defects","disease_group":"","disease_sub_group":"","status":"public","version":"1.5","version_created":"2017-11-05T02:37:19.836037Z","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7432","gene_name":"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","omim_gene":["172460"],"alias_name":null,"gene_symbol":"MTHFD1","hgnc_symbol":"MTHFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64854749-64926722","ensembl_id":"ENSG00000100714"}},"GRch38":{"90":{"location":"14:64388031-64463457","ensembl_id":"ENSG00000100714"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"MTHFD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27707659","25633902"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780","Defects of Vitamin B12 and Folate metabolism","Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive","Combined immunodeficiencies with associated or syndromic features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7432","gene_name":"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","omim_gene":["172460"],"alias_name":null,"gene_symbol":"MTHFD1","hgnc_symbol":"MTHFD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:64854749-64926722","ensembl_id":"ENSG00000100714"}},"GRch38":{"90":{"location":"14:64388031-64463457","ensembl_id":"ENSG00000100714"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"MTHFD1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN"],"phenotypes":["{Spina bifida, folate-sensitive, susceptibility to} 601634 AR","{Abruptio placentae, susceptibility to}"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7432","gene_name":"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","omim_gene":["172460"],"alias_name":null,"gene_symbol":"MTHFD1","hgnc_symbol":"MTHFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64854749-64926722","ensembl_id":"ENSG00000100714"}},"GRch38":{"90":{"location":"14:64388031-64463457","ensembl_id":"ENSG00000100714"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"MTHFD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["{Abruptio placentae, susceptibility to}","{Spina bifida, folate-sensitive, susceptibility to} 601634 AR"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}
