{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["14639529"],"evidence":["Expert Review Green","Other","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Capillary malformation-arteriovenous malformation, 608354","Parkes Weber syndrome, 608355","Parkes Weber syndrome (PKWS)","Capillary Malformation-Arteriovenous Malformation Syndrome","Parkes Weber Syndrome","Parkes Weber syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert Review"],"phenotypes":["Parkes Weber syndrome, 608355","PKWS","Parkes Weber Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":"5763f2348f620350a1996043","name":"Segmental overgrowth disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-06-20T15:15:15.957079Z","relevant_disorders":["Regional overgrowth disorders"],"stats":{"number_of_genes":14,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18446851","27081547"],"evidence":["Expert Review Red","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Capillary malformation-arteriovenous malformation\t608354"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":123,"hash_id":"5633857722c1fc582756e3d9","name":"Hereditary haemorrhagic telangiectasia","disease_group":"Respiratory disorders","disease_sub_group":"Vascular lung disorders","status":"public","version":"2.0","version_created":"2019-09-23T17:00:03.179221Z","relevant_disorders":["Familial and multiple pulmonary arteriovenous malformations","R186"],"stats":{"number_of_genes":15,"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":"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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Capillary malformation-arteriovenous malformation 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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Capillary malformation-arteriovenous malformation 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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["PARKES WEBER SYNDROME","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION"],"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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18363760","14639529"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["PARKES WEBER SYNDROME 608355","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354"],"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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Parkes Weber syndrome, 608355","Capillary","malformation-arteriovenous malformation, 608354","Basal cell carcinoma, somatic, 605462"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26969842","23650393","22342634"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Capillary malformation-arteriovenous malformation 1 608354"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":65,"hash_id":"57ee82ef8f62035c9b2d0487","name":"Primary lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","status":"public","version":"2.0","version_created":"2019-10-02T14:10:33.689992Z","relevant_disorders":["Lymphatic Disorders","Meiges disease","Meige disease","Milroy disease","Lymphoedema distichiasis","Lipoedema disease","R136"],"stats":{"number_of_genes":51,"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."}]}}]}
