{"count":14,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9020840","10072433","10471511","10655545","10991693","11409867","11703923","11734542","12404110","14517553","14628042","14628052","14628053","15146463","15226428","15479196","15493068","16441263","16691597","16990542","18177466","18220287","19206155","19234442","21280147","2773990","5365063","9006082","9020840","9342347","9359046","9361030","9603436"],"evidence":["Expert Review Green","Emory Genetics Laboratory","UKGTN","Eligibility statement prior genetic testing","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list","Eligibility statement exclusion criteria"],"phenotypes":["Bilateral Microtia","pre auricular pits","113650","Familial hemifacial microsomia with preauricular pits","Branchiootorenal syndrome 1, with or without cataracts, 113650","Hearing loss panel","Otofaciocervical Syndrome","Branchio-oto-renal syndrome which includes microtia"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Branchiootorenal syndrome 1, with or without cataracts, 113650","Anterior segment anomalies with or without cataract, 113650","Branchiootic syndrome 1, 602588","Otofaciocervical syndrome, 166780"],"mode_of_inheritance":"","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Branchiootic syndrome 1 (602588)","Branchiootorenal syndrome 1, with or without cataracts (113650)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Branchiootorenal syndrome 1, with or without cataracts\t113650"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":156,"hash_id":"5693974122c1fc251660fb1f","name":"Unexplained kidney failure in young people","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.73","version_created":"2019-07-17T16:13:42.477129Z","relevant_disorders":["Familial IgA nephropathy and IgA vasculitis","End-stage renal disease - childhood onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","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":["Branchiootorenal syndrome 1, with or without cataracts, 113650","Anterior segment anomalies with or without cataract, 113650","Branchiootic syndrome 1, 602588","Otofaciocervical syndrome, 166780","Branchiootorenal Spectrum Disorders"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":234,"hash_id":"553f9696bb5a1616e5ed45d1","name":"CAKUT","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Structural renal and urinary tract disease","status":"public","version":"1.39","version_created":"2019-06-20T15:14:56.833108Z","relevant_disorders":["Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)"],"stats":{"number_of_genes":65,"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Branchiootorenal syndrome 1, with or without cataracts, 113650","Anterior segment anomalies with or without cataract, 113650","Branchiootic syndrome 1, 602588","Otofaciocervical syndrome, 166780","Branchiootorenal syndrome 1, with or without cataracts","Branchiootorenal Spectrum Disorders"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":493,"hash_id":null,"name":"Renal and urinary tract disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.18","version_created":"2019-07-04T13:55:26.963386Z","relevant_disorders":[],"stats":{"number_of_genes":177,"number_of_strs":0,"number_of_regions":3},"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Branchiootorenal syndrome 1, with or without cataracts, 113650","Otofaciocervical syndrome, 166780","Branchiootic syndrome 1, 602588","Branchiootorenal syndrome 1, with or without cataracts","Branchiootorenal Spectrum Disorders","Anterior segment anomalies with or without cataract, 113650"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"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)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["BRANCHIOOTORENAL SYNDROME TYPE 1"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16441263"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["BRANCHIOOTORENAL SYNDROME TYPE 1 113650","OTOFACIOCERVICAL SYNDROME 166780"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["watchlist"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:10072433","10471511","10655545","10991693","11409867","11703923","11734542","12404110","14517553","14628042","14628052","14628053","15146463","15226428","15479196","15493068","16441263","16691597","16990542","18177466","18220287","19206155","19234442","21280147","2773990","5365063","9006082","9020840","9342347","9359046","9361030","9603436"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["hearing loss","#113650:Branchiootorenal syndrome 1, with or without cataracts","Anterior segment anomalies with or without cataract, 113650","Branchiootic syndrome 1, 602588","Otofaciocervical syndrome, 166780"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["BRANCHIOOTORENAL SYNDROME 1","BOR1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Branchiootorenal syndrome 1, with or without cataracts, 113650","Anterior segment anomalies with or without cataract, 113650","Branchiootic syndrome 1, 602588","?Otofaciocervical syndrome, 166780"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Branchiootic syndrome 1, 602588","Anterior segment anomalies with or without cataract, 113650"],"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)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert review green","Literature"],"phenotypes":["Congenital or cystic renal disease","MIM 113650","Branchiootorenal syndrome 1 with or without cataracts"],"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"}]}}]}
