{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Steiner et al (2000) Am J Med Genet 91:131-134"],"evidence":["Expert Review Red","UKGTN"],"phenotypes":[],"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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":[],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green",""],"phenotypes":["Spondylocarpotarsal synostosis syndrome 272460","Atelosteogenesis, type III 108721","Boomerang dysplasia 112310","Atelosteogenesis, type I 108720","Larsen syndrome 150250"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ATELOSTEOGENESIS TYPE 1","BOOMERANG DYSPLASIA","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME","AUTOSOMAL DOMINANT LARSEN SYNDROME","ATELOSTEOGENESIS TYPE 3"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["spondylo-carpel-tarsel dysplasia","Larsen syndrome (dominant)","atelsteogenesis type 1/3"],"mode_of_inheritance":"","tags":[],"panel":{"id":168,"hash_id":"55b605f722c1fc05fd2345af","name":"Craniosynostosis","disease_group":"Skeletal disorders","disease_sub_group":"Craniosynostosis syndromes","status":"public","version":"2.0","version_created":"2019-09-17T13:00:09.542482Z","relevant_disorders":["Craniosynostosis syndromes","Craniosynostosis syndromes phenotypes","Rare syndromic craniosynostosis or isolated multisuture synostosis","R100"],"stats":{"number_of_genes":114,"number_of_strs":0,"number_of_regions":2},"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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Disproportionate Short Stature"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14991055"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["AUTOSOMAL DOMINANT LARSEN SYNDROME 150250","ATELOSTEOGENESIS TYPE 3 108721","ATELOSTEOGENESIS TYPE 1 108720","BOOMERANG DYSPLASIA 112310","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460"],"mode_of_inheritance":"BOTH monoallelic and 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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Skeletal dysplasia with midline cleft palate","Orofacial Clefting with skeletal features","Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460","Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250","Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720","Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments ","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Spondylocarpotarsal synostosis syndrome, 272460","Larsen syndrome, 150250","Atelosteogenesis, type I, 108720","Atelosteogenesis, type III, 108721","Boomerang dysplasia, 112310"],"mode_of_inheritance":"BOTH monoallelic and 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"}]}}]}