{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28297620"],"evidence":["Curated sources","Expert Review Green"],"phenotypes":["Class: miscellaneous","Ataxia Pancytopenia Syndrome","MDS, AML"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":407,"hash_id":null,"name":"Haematological malignancies for rare disease","disease_group":"Tumour syndromes","disease_sub_group":"Tumour syndromes","status":"public","version":"1.1","version_created":"2019-06-20T15:11:49.421852Z","relevant_disorders":[],"stats":{"number_of_genes":89,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28202457"],"evidence":["Expert Review Amber","North West GLH","London North GLH","NHS GMS","IUIS Classification February 2018"],"phenotypes":["Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction","Combined immunodeficiencies with associated or syndromic features"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["27259050","28202457"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ataxia-pancytopenia syndrome\t159550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: miscellaneous","Ataxia Pancytopenia Syndrome","MDS, AML"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":59,"hash_id":"594a71908f620375d17ea6b2","name":"Haematological malignancies cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.19","version_created":"2019-08-06T10:21:26.792978Z","relevant_disorders":["Haemonc;Haematological malignancies pertinent cancer susceptibility"],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27259050"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["159550 Ataxia-pancytopenia syndrome","Ataxia-pancytopenia syndrome, 159550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":519,"hash_id":null,"name":"Cytopenia - NOT Fanconi anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"0.120","version_created":"2019-09-23T10:29:43.892929Z","relevant_disorders":["R91","R258"],"stats":{"number_of_genes":84,"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)"}]}},{"gene_data":{"alias":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27259050"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["Ataxia-Pancytopenia Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"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":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Green","London North GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Ataxia-pancytopenia syndrome, 159550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"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."}]}}]}
