{"count":19,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MIRAGE syndrome  617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Other"],"phenotypes":["MIRAGE syndrome 617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":247,"hash_id":"5763f4588f620350a199604e","name":"Radial dysplasia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.6","version_created":"2017-11-05T02:37:20.295815Z","relevant_disorders":[],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Red","Literature"],"phenotypes":["MIRAGE syndrome  617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":63,"hash_id":"58c7f5008f620328d77ce70f","name":"Familial Hirschsprung Disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.6","version_created":"2019-06-20T15:11:10.292595Z","relevant_disorders":[],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MIRAGE syndrome, 617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MIRAGE syndrome, 617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MIRAGE syndrome  617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"panel":{"id":61,"hash_id":"578e26918f62031b478bdb68","name":"Gastrointestinal neuromuscular disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.10","version_created":"2018-12-16T17:39:16.981966Z","relevant_disorders":["Neonatal and familial gastrointestinal neuromuscular disorders","Infantile pseudo-obstruction","Early onset or familial intestinal pseudo obstruction"],"stats":{"number_of_genes":26,"number_of_strs":1,"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."}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["18094730","16960814"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Tumoral calcinosis, familial, normophosphatemic, 610455"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":552,"hash_id":null,"name":"Familial tumoral calcinosis","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T14:36:02.985916Z","relevant_disorders":["R162"],"stats":{"number_of_genes":4,"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":"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Familial tumoural calcinosis"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":"Other","publications":["PMID: 30466750","PMID:  29146883"],"evidence":["Expert Review Amber","Research","Literature"],"phenotypes":["MIRAGE syndrome\t617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":525,"hash_id":null,"name":"Inherited predisposition to acute myeloid leukaemia (AML)","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T13:06:38.692384Z","relevant_disorders":["R347"],"stats":{"number_of_genes":14,"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":"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28487541","29175836","29266745","29535429"],"evidence":["Expert Review Amber","IUIS Classification February 2018"],"phenotypes":["IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen","Combined immunodeficiencies with associated or syndromic features","MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy)","ataxia-thrombocytopenia syndrome"],"mode_of_inheritance":"Other - please specifiy in evaluation comments","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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MIRAGE syndrome, 617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","London North GLH","NHS GMS"],"phenotypes":["Familial tumoural calcinosis"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":558,"hash_id":null,"name":"Multiple monogenic benign skin tumours","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-06-20T15:15:13.746402Z","relevant_disorders":[],"stats":{"number_of_genes":43,"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MIRAGE syndrome  617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"panel":{"id":9,"hash_id":"569380ac22c1fc251660faf8","name":"Disorders of sex development","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"2.1","version_created":"2019-10-01T10:16:03.440399Z","relevant_disorders":["R146"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27182967"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["MIRAGE syndrome, 617053","617053 MIRAGE syndrome"],"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["27182967","28346228"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"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."}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28346228","27182967"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy"],"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Red"],"phenotypes":["MIRAGE syndrome, 617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"number_of_regions":5},"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."}]}},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MIRAGE syndrome, 617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["missense"],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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"}]}}]}