{"count":21,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28293556"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Nevus comedonicus, multifocal hidradenitis suppurativa and acne"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":23,"hash_id":"5885e9db8f620309044f8a0a","name":"Familial hidradenitis suppurativa","disease_group":"Dermatological disorders","disease_sub_group":"Skin adnexa disorders","status":"public","version":"1.1","version_created":"2017-11-05T02:37:19.861127Z","relevant_disorders":[],"stats":{"number_of_genes":11,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Other"],"phenotypes":["LADD syndrome, 149730","Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs","short radius"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":247,"hash_id":"5763f4588f620350a199604e","name":"Radial dysplasia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.6","version_created":"2017-11-05T02:37:20.295815Z","relevant_disorders":[],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Eligibility statement prior genetic testing"],"phenotypes":["Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410","Apert syndrome 101200","Beare-Stevenson cutis gyrata syndrome 123790","Pfeiffer syndrome 101600","Craniofacial-skeletal-dermatologic dysplasia 101600","Craniosynostosis, nonspecific"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":"553f9697bb5a1616e5ed45d3","name":"Choanal atresia","disease_group":"Skeletal disorders","disease_sub_group":"Choanal anomalies","status":"public","version":"1.13","version_created":"2019-06-20T15:10:33.283018Z","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":101,"hash_id":"553f9598bb5a1616e5ed45ae","name":"VACTERL-like phenotypes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Limb disorders","status":"public","version":"1.24","version_created":"2019-06-20T15:15:18.221805Z","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16691624","7719344"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Apert syndrome","Crouzon syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":179,"hash_id":"5763f35c8f620350a22bccdf","name":"Hydrocephalus","disease_group":"","disease_sub_group":"","status":"public","version":"1.38","version_created":"2019-09-30T12:37:55.307389Z","relevant_disorders":["Hydrocephalus;R86"],"stats":{"number_of_genes":98,"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16501574"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","UKGTN","Emory Genetics Laboratory","Expert list"],"phenotypes":["Bilateral Microtia","Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410","Apert syndrome 101200","Beare-Stevenson cutis gyrata syndrome 123790","Bent bone dysplasia syndrome 614592","Craniofacial-skeletal-dermatologic dysplasia, Pfeiffer syndrome 101600","Crouzon syndrome 123500","LADD syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Victorian Clinical Genetics Services","Emory Genetics Laboratory","Expert list","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN","Expert Review Green","London South East RGC GSTT","Viapath"],"phenotypes":["Polydactyly","LADD syndrome 149730","LADD syndrome, 149730","Craniosynostosis, nonspecific Crouzon syndrome 123500","short radius","Craniofacial-skeletal-dermatologic dysplasia 101600","Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410","Gastric cancer, somatic 613659","Beare-Stevenson cutis gyrata syndrome 123790","Jackson-Weiss syndrome 123150","Pfeiffer syndrome 101600","Bent bone dysplasia syndrome 614592","Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs","Apert syndrome 101200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","London North GLH","NHS GMS"],"phenotypes":["Beare-Stevenson cutis gyrata"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":558,"hash_id":null,"name":"Multiple monogenic benign skin tumours","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-06-20T15:15:13.746402Z","relevant_disorders":[],"stats":{"number_of_genes":43,"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9605588"],"evidence":["Expert Review Green","Literature","UKGTN","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410"],"mode_of_inheritance":"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","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":[],"evidence":["NHS GMS","Expert list","Expert Review Green"],"phenotypes":["Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410","Apert syndrome 101200","Beare-Stevenson cutis gyrata syndrome 123790","Pfeiffer syndrome 101600","Craniofacial-skeletal-dermatologic dysplasia 101600","Crouzon syndrome 123500","Jackson-Weiss syndrome 123150","Saethre-Chotzen syndrome 101400","Scaphocephaly, maxillary retrusion, and mental retardation 609579"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":507,"hash_id":null,"name":"Common craniosynostosis syndromes","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-04T09:49:37.773020Z","relevant_disorders":["R99"],"stats":{"number_of_genes":7,"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list","UKGTN",""],"phenotypes":["Beare-Stevenson cutis gyrata syndrome 123790","Craniosynostosis, nonspecific Crouzon syndrome 123500","Craniofacial-skeletal-dermatologic dysplasia 101600","Pfeiffer syndrome 101600","Gastric cancer, somatic 613659","Jackson-Weiss syndrome 123150","LADD syndrome 149730","Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410","Apert syndrome 101200","Bent bone dysplasia syndrome 614592"],"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis\t 207410","Apert syndrome 101200","Beare-Stevenson cutis gyrata syndrome 123790","Bent bone dysplasia syndrome 614592","Craniofacial-skeletal-dermatologic dysplasia 101600","Craniosynostosis, nonspecific","Crouzon syndrome 123500","Gastric cancer, somatic 613659","Jackson-Weiss syndrome 123150","LADD syndrome 149730","Pfeiffer syndrome 101600","Saethre-Chotzen syndrome 101400","Scaphocephaly and Axenfeld-Rieger anomaly","Scaphocephaly, maxillary retrusion, and mental retardation 609579"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis\t 207410","Apert syndrome 101200","Beare-Stevenson cutis gyrata syndrome 123790","Bent bone dysplasia syndrome 614592","Craniofacial-skeletal-dermatologic dysplasia 101600","Craniosynostosis, nonspecific","Crouzon syndrome 123500","Gastric cancer, somatic 613659","Jackson-Weiss syndrome 123150","LADD syndrome 149730","Pfeiffer syndrome 101600","Saethre-Chotzen syndrome 101400","Scaphocephaly and Axenfeld-Rieger anomaly","Scaphocephaly, maxillary retrusion, and mental retardation 609579"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28425981"],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["BEARE-STEVENSON CUTIS GYRATA SYNDROME","LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME","JACKSON-WEISS SYNDROME","ACROCEPHALOSYNDACTYLY TYPE V","FAMILIAL SCAPHOCEPHALY SYNDROME","ANTLEY-BIXLER SYNDROME","CROUZON SYNDROME","APERT 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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","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":["7719344","7987400","7719345","8696350","22387015"],"evidence":["NHS GMS","Expert Review Green","Eligibility statement prior genetic testing","Expert list","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Crouzon syndrome, 123500","Jackson-Weiss syndrome, 123150","Beare-Stevenson cutis gyrata syndrome, 123790","Pfeiffer syndrome, 101600","Apert syndrome, 101200","Saethre-Chotzen","Craniosynostosis, nonspecific syndrome, 101400","Gastric cance","Craniosynostosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["19610084","8696350"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790","ANTLEY-BIXLER SYNDROME 207410","FAMILIAL SCAPHOCEPHALY SYNDROME 609579","JACKSON-WEISS SYNDROME 123150","APERT SYNDROME 101200","CROUZON SYNDROME 123500","LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730","ACROCEPHALOSYNDACTYLY TYPE V 101600"],"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["APERT SYNDROME"],"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16061565"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Antley-Bixler syndrome","Apert syndrome","Crouzon syndrome","Beare-Stevenson Cutis Gyrata syndrome"],"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"}]}},{"gene_data":{"alias":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert review red","Literature"],"phenotypes":["Nephropathy of unknown origin","MIM 101600","Pfeiffer syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":720,"hash_id":null,"name":"Groopman et al 2019 - Genes with diagnostic variants","disease_group":"","disease_sub_group":"","status":"public","version":"0.8","version_created":"2019-07-09T15:48:14.145108Z","relevant_disorders":[],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Submitted List","slug":"submitted-list","description":"Original list, ratings, comments submitted to PanelApp- generally used for the creation of reference GMS panels, these panels  should be internal only"}]}}]}
