{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Expert Review Green","UKGTN"],"phenotypes":["Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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"}]}},{"gene_data":{"alias":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","PAGE DD-Gene2Phenotype"],"phenotypes":["MENTAL RETARDATION, X-LINKED 3","COBALAMIN DISORDER"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24011988"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MENTAL RETARDATION, X-LINKED 3 309541","COBALAMIN DISORDER"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24011988","23000143"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Mental retardation, X-linked 3, 309541","MENTAL RETARDATION, X-LINKED 3","MRX3"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"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"}]}}]}