{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["G-ALPHA-q","GAQ"],"biotype":"protein_coding","hgnc_id":"HGNC:4390","gene_name":"G protein subunit alpha q","omim_gene":["600998"],"alias_name":null,"gene_symbol":"GNAQ","hgnc_symbol":"GNAQ","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:80331003-80646374","ensembl_id":"ENSG00000156052"}},"GRch38":{"90":{"location":"9:77716087-78031458","ensembl_id":"ENSG00000156052"}}},"hgnc_date_symbol_changed":"1992-12-15"},"entity_type":"gene","entity_name":"GNAQ","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Other"],"phenotypes":["Cerebral diseases of vascular origin with epilepsy","Capillary malformations, congenital, 1, somatic, mosaic, 163000"],"mode_of_inheritance":"","tags":["mosaicism","currently-ngs-unreportable"],"panel":{"id":147,"hash_id":"5819a24f8f6203341de99c89","name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Cerebrovascular disorders","status":"public","version":"1.47","version_created":"2019-09-13T13:47:21.970257Z","relevant_disorders":["Cerebrovascular disorders","Vein of Galen malformation","Cerebral arteriovenous malformations","Moyamoya disease"],"stats":{"number_of_genes":95,"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."}]}},{"gene_data":{"alias":["G-ALPHA-q","GAQ"],"biotype":"protein_coding","hgnc_id":"HGNC:4390","gene_name":"G protein subunit alpha q","omim_gene":["600998"],"alias_name":null,"gene_symbol":"GNAQ","hgnc_symbol":"GNAQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80331003-80646374","ensembl_id":"ENSG00000156052"}},"GRch38":{"90":{"location":"9:77716087-78031458","ensembl_id":"ENSG00000156052"}}},"hgnc_date_symbol_changed":"1992-12-15"},"entity_type":"gene","entity_name":"GNAQ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Phakomatosis pigmentovascularis","Extensive dermal melanocytosis","Sturge Weber syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["G-ALPHA-q","GAQ"],"biotype":"protein_coding","hgnc_id":"HGNC:4390","gene_name":"G protein subunit alpha q","omim_gene":["600998"],"alias_name":null,"gene_symbol":"GNAQ","hgnc_symbol":"GNAQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80331003-80646374","ensembl_id":"ENSG00000156052"}},"GRch38":{"90":{"location":"9:77716087-78031458","ensembl_id":"ENSG00000156052"}}},"hgnc_date_symbol_changed":"1992-12-15"},"entity_type":"gene","entity_name":"GNAQ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Phakomatosis pigmentovascularis","Extensive dermal melanocytosis","Sturge Weber syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":564,"hash_id":null,"name":"Mosaic skin disorders - deep sequencing","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-09T15:38:42.362892Z","relevant_disorders":[],"stats":{"number_of_genes":39,"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":["G-ALPHA-q","GAQ"],"biotype":"protein_coding","hgnc_id":"HGNC:4390","gene_name":"G protein subunit alpha q","omim_gene":["600998"],"alias_name":null,"gene_symbol":"GNAQ","hgnc_symbol":"GNAQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80331003-80646374","ensembl_id":"ENSG00000156052"}},"GRch38":{"90":{"location":"9:77716087-78031458","ensembl_id":"ENSG00000156052"}}},"hgnc_date_symbol_changed":"1992-12-15"},"entity_type":"gene","entity_name":"GNAQ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Phakomatosis pigmentovascularis","Extensive dermal melanocytosis","Sturge Weber syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":563,"hash_id":null,"name":"Vascular skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-09T15:38:44.120161Z","relevant_disorders":[],"stats":{"number_of_genes":34,"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":["G-ALPHA-q","GAQ"],"biotype":"protein_coding","hgnc_id":"HGNC:4390","gene_name":"G protein subunit alpha q","omim_gene":["600998"],"alias_name":null,"gene_symbol":"GNAQ","hgnc_symbol":"GNAQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80331003-80646374","ensembl_id":"ENSG00000156052"}},"GRch38":{"90":{"location":"9:77716087-78031458","ensembl_id":"ENSG00000156052"}}},"hgnc_date_symbol_changed":"1992-12-15"},"entity_type":"gene","entity_name":"GNAQ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["Congenital Hemangioma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["mosaicism"],"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":["G-ALPHA-q","GAQ"],"biotype":"protein_coding","hgnc_id":"HGNC:4390","gene_name":"G protein subunit alpha q","omim_gene":["600998"],"alias_name":null,"gene_symbol":"GNAQ","hgnc_symbol":"GNAQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80331003-80646374","ensembl_id":"ENSG00000156052"}},"GRch38":{"90":{"location":"9:77716087-78031458","ensembl_id":"ENSG00000156052"}}},"hgnc_date_symbol_changed":"1992-12-15"},"entity_type":"gene","entity_name":"GNAQ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27058448"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["Congenital Hemangioma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["mosaicism"],"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":["G-ALPHA-q","GAQ"],"biotype":"protein_coding","hgnc_id":"HGNC:4390","gene_name":"G protein subunit alpha q","omim_gene":["600998"],"alias_name":null,"gene_symbol":"GNAQ","hgnc_symbol":"GNAQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80331003-80646374","ensembl_id":"ENSG00000156052"}},"GRch38":{"90":{"location":"9:77716087-78031458","ensembl_id":"ENSG00000156052"}}},"hgnc_date_symbol_changed":"1992-12-15"},"entity_type":"gene","entity_name":"GNAQ","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":["25374402","23656586","28126187"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sturge-Weber syndrome, somatic, mosaic, 185300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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"}]}}]}