{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19409522"],"evidence":["Expert Review Red"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Di Fonzo et al (2009) Am J Hum Genet 84:594-604"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076"],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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","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":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19409522"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":225,"hash_id":"553f94b6bb5a1616e5ed459a","name":"Congenital myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.166","version_created":"2019-10-09T12:41:32.789611Z","relevant_disorders":["R81"],"stats":{"number_of_genes":100,"number_of_strs":2,"number_of_regions":3},"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)"}]}},{"gene_data":{"alias":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","Disorders of the mitochondrial import system","Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076"],"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":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","Disorders of the mitochondrial import system","Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076","Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))"],"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"}]}},{"gene_data":{"alias":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"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":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19409522"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076","Myopathy,mitochondrialprogressive,withcongenitalcataract,hearingloss,anddevelopmentaldelay,613076"],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19409522","26018198","28155230"],"evidence":["Expert Review Green","Expert Review Green","Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076","Intellectual disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}},{"gene_data":{"alias":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 26018198","19409522"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","Disorders of the mitochondrial import system","Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"},{"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":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}
