{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9761567","10071194","15734008","1619642","19685247","6829601","2354548","10507730","10767004","11406275","12843180","15930016","1619642","18423521","1916817","19206157","19685247","20150232","20358615","23382213","24097348","3040262","3063603","7747785","8190633","8321221","8622765","8622766","8661133","8824807"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Bilateral Microtia","Branchiooculofacial syndrome 113620","External and middle ear anomalies","branchial cleft sinus defects","ocular anomalies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":251,"hash_id":"57f4dbd18f62036d37cfe4e4","name":"Deafness and congenital structural abnormalities","disease_group":"Hearing and ear disorders","disease_sub_group":"Deafness and congenital structural abnormalities","status":"public","version":"1.17","version_created":"2019-06-20T15:10:56.166309Z","relevant_disorders":["Bilateral microtia","Ear malformations with hearing impairment","Ear malformations","Familial hemifacial microsomia"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["20358615","19685247"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Polydactyly","Branchiooculofacial syndrome, 113620","Clinodactyly","Syndactyly"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["deletions","watchlist"],"panel":{"id":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet 152A:994-999."],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Branchiooculofacial syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10767004, 18423521"],"evidence":["Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Branchiooculofacial syndrome , 113620"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":294,"hash_id":"5550a166bb5a161bf644a3b6","name":"Ocular coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.34","version_created":"2019-06-20T15:15:14.600523Z","relevant_disorders":[],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["BRANCHIOOCULOFACIAL SYNDROME"],"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":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["BRANCHIOOCULOFACIAL SYNDROME 113620"],"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":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10767004"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["BRANCHIOOCULOFACIAL SYNDROME","BOFS","Cleft lip"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":81,"hash_id":"57acb8268f620364dc61afd3","name":"Clefting","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.59","version_created":"2019-09-03T09:03:20.170928Z","relevant_disorders":["Familial non-syndromic cleft lip and or familial cleft palate","Familial non-syndromic clefting","Syndromic cleft lip and or cleft palate","Syndromic clefting"],"stats":{"number_of_genes":258,"number_of_strs":0,"number_of_regions":5},"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":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments ","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Branchiooculofacial syndrome, 113620"],"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":["AP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11742","gene_name":"transcription factor AP-2 alpha","omim_gene":["107580"],"alias_name":null,"gene_symbol":"TFAP2A","hgnc_symbol":"TFAP2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:10393419-10419892","ensembl_id":"ENSG00000137203"}},"GRch38":{"90":{"location":"6:10393186-10419659","ensembl_id":"ENSG00000137203"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"TFAP2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19685247","18423521"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Branchiooculofacial syndrome , 113620","Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}