{"count":21,"next":null,"previous":null,"results":[{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Eligibility statement prior genetic testing","Emory Genetics Laboratory"],"phenotypes":["Eye Disorders","aniridia"],"mode_of_inheritance":"","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Aniridia, Cerebellar Ataxia, And Mental Retardation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Morning glory disc anomaly, 120430","Aniridia, 106210","Cataract with late-onset corneal dystrohpy, 106210","Coloboma of optic nerve, 120430","Coloboma, ocular, 120200","Foveal hypoplasia 1, 136520","Gillespie syndrome, 206700","Keratitis, 148190","Optic nerve hypoplasia, 165550","Peters anomaly, 604229","Wagner Syndrome","Aniridia","PAX6-related Disorders","Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":243,"hash_id":"55af539322c1fc78a9ef5052","name":"Tumour predisposition - childhood onset","disease_group":"Tumour syndromes","disease_sub_group":"Childhood Tumours","status":"public","version":"1.36","version_created":"2019-08-12T08:35:21.843722Z","relevant_disorders":["Paediatric congenital malformation-dysmorphism-tumour syndrome","Paediatric congenital malformation-dysmorphism-tumour syndromes","Paediatric congenital malformation-dysmorphism-tumour sydromes","Paediatric congenital malformation-dysmorphism-tumour syndrome","R359"],"stats":{"number_of_genes":113,"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":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25342853"],"evidence":["Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center"],"phenotypes":["Aniridia (106210)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":483,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"2.0","version_created":"2019-07-31T14:30:21.964840Z","relevant_disorders":["R159"],"stats":{"number_of_genes":50,"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."},{"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Morning glory disc anomaly, 120430","Aniridia, 106210","Cataract with late-onset corneal dystrohpy, 106210","Coloboma of optic nerve, 120430","Coloboma, ocular, 120200","Foveal hypoplasia 1, 136520","Gillespie syndrome, 206700","Keratitis, 148190","Optic nerve hypoplasia, 165550","Peters anomaly, 604229","Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization","Optic Nerve Malformations","Foveal Hypoplasia and Presenile Cataract 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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Expert Review Green","NHS GMS"],"phenotypes":["Aniridia, 106210","diabetes"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":152,"hash_id":"553f9745bb5a1616e5ed45e9","name":"Familial diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.38","version_created":"2019-06-20T15:15:02.453936Z","relevant_disorders":["Familial young-onset non-insulin-dependent diabetes"],"stats":{"number_of_genes":56,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Aniridia, Cerebellar Ataxia, And Mental Retardation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["?Coloboma of optic nerve 120430 AD","Optic nerve hypoplasia 165550 AD","Aniridia 106210 AD","Cataract with late-onset corneal dystrophy 106210 AD","?Morning glory disc anomaly 120430 AD","Anterior segment dysgenesis 5, multiple subtypes 604229","Keratitis 148190 AD","Foveal hypoplasia 1 136520 AD","?Coloboma, ocular 120200 AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":511,"hash_id":null,"name":"Albinism or congenital nystagmus","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-08-05T09:16:46.441760Z","relevant_disorders":["R39"],"stats":{"number_of_genes":41,"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1302030","8111379","7951315","7666404","7550230","19876904","9931324","12552561","11826019","11553050","17148041","17595013","17406642"],"evidence":["Wessex and West Midlands GLH","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Aniridia 106210"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":510,"hash_id":null,"name":"Aniridia","disease_group":"","disease_sub_group":"","status":"public","version":"2.0","version_created":"2019-08-01T09:21:35.243373Z","relevant_disorders":["R38"],"stats":{"number_of_genes":6,"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":"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["3234463","4395516","2855731"],"evidence":["Expert Review Red","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Morning glory disc anomaly 120430","Aniridia 106210","Cataract with late-onset corneal dystrohpy 106210","Coloboma of optic nerve 120430","Coloboma ocular 120200","Foveal hypoplasia 1 136520","Gillespie syndrome 206700","Keratitis 148190","Optic nerve hypoplasia 165550","Peters anomaly 604229","Anterior segment dysgenesis 5, multiple subtypes 604229"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":"553f979ebb5a1616e5ed45f6","name":"Corneal abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.7","version_created":"2019-04-01T14:16:45.925824Z","relevant_disorders":["Corneal abnormalities","Corneal dystrophy"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12721955, 24859618"],"evidence":["Expert Review Green","Literature","Radboud University Medical Center, Nijmegen"],"phenotypes":["?Morning glory disc anomaly, 120430Aniridia, 106210Cataract with late-onset corneal dystrohpy, 106210Coloboma of optic nerve, 120430Coloboma, ocular, 120200Foveal hypoplasia 1, 136520Gillespie syndrome, 206700Keratitis, 148190Optic nerve hypoplasia, 165550Peters anomaly, 604229"],"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Aniridia 106210","diabetes"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"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":"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","UKGTN"],"phenotypes":["Not relevant to this panel"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":9,"hash_id":"569380ac22c1fc251660faf8","name":"Disorders of sex development","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"2.1","version_created":"2019-10-01T10:16:03.440399Z","relevant_disorders":["R146"],"stats":{"number_of_genes":54,"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":"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Aniridia, Cerebellar Ataxia, And Mental Retardation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","PAGE DD-Gene2Phenotype"],"phenotypes":["COLOBOMA OF OPTIC NERVE","ANIRIDIA","BILATERAL OPTIC NERVE HYPOPLASIA","ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY","KERATITIS HEREDITARY","PETERS ANOMALY","FOVEAL HYPOPLASIA"],"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17595013","17148041"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["COLOBOMA OF OPTIC NERVE 120430","ANIRIDIA 106210","FOVEAL HYPOPLASIA 136520","BILATERAL OPTIC NERVE HYPOPLASIA 165550","KERATITIS HEREDITARY 148190","PETERS ANOMALY 604229","ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700"],"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Anophthalmia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":34,"hash_id":"553f97abbb5a1616e5ed45f9","name":"Anophthalmia or microphthalmia","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.21","version_created":"2019-06-20T15:14:55.669056Z","relevant_disorders":["Anophthalmia or microphthamia","Anophthalmia/microphthamia","Anophthalmia/microphthalmia"],"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"}]}},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","UKGTN"],"phenotypes":["Aniridia, Cerebellar Ataxia, And Mental Retardation","Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700","KERATITIS HEREDITARY (KERH)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","NHS GMS","Wessex and West Midlands GLH","Hereditary ataxia v1.148"],"phenotypes":["Aniridia, 106210","Aniridia, Cerebellar Ataxia, And Mental Retardation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Eligibility statement prior genetic testing","Expert Review Red"],"phenotypes":["Foveal Hypoplasia and Presenile Cataract Syndrome","Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["17406642","11826019","1302030","19876904","17148041","8111379","9931324","7666404","17595013","12552561","7951315","11553050","7550230"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Coloboma of optic nerve, 120430","Peters anomaly, 604229","Coloboma, ocular, 120200","Optic nerve hypoplasia, 165550","Aniridia 106210","Foveal hypoplasia 1, 136520","?Morning glory disc anomaly, 120430","Keratitis, 148190","Anophthalmia","Cataract with late-onset corneal dystrohpy, 106210","Gillespie syndrome, 206700"],"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)"}]}}]}