{"count":18,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19668215","31173343"],"evidence":["Expert Review Amber","Expert list","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156","Joubert syndrome 1, 213300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":"55d2fc2d22c1fc2cc6635960","name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"Obesity syndromes","status":"public","version":"2.0","version_created":"2019-09-23T12:02:23.516332Z","relevant_disorders":["Significant early-onset obesity with or without other endocrine features and short stature","Significant early-onset obesity +/- other endocrine features and short stature","R149"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":3},"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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Removed","Victorian Clinical Genetics Services"],"phenotypes":["Polydactyly"],"mode_of_inheritance":"","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Joubert syndrome 1 (213300)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert"],"phenotypes":["Ciliopathy genes associated with cystic kidney disease"],"mode_of_inheritance":"","tags":[],"panel":{"id":283,"hash_id":"55a646ef22c1fc6710839b9a","name":"Cystic kidney disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Structural renal and urinary tract disease","status":"public","version":"2.0","version_created":"2019-09-03T14:24:08.102447Z","relevant_disorders":["Cystic kidney disease"],"stats":{"number_of_genes":62,"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","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"},{"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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert"],"phenotypes":["Ciliopathy genes associated with cystic kidney disease"],"mode_of_inheritance":"","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23386033","26748598"],"evidence":["Expert Review Red","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review"],"phenotypes":["Joubert syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19668215"],"evidence":["Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Ciliopathy genes associated with cystic kidney disease"],"mode_of_inheritance":"Unknown","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Ciliopathy genes associated with cystic kidney disease"],"mode_of_inheritance":"Unknown","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS","JOUBERT SYNDROME TYPE 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19668216"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["JOUBERT SYNDROME TYPE 1 213300","MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26748598","25529582","24896178","19668216"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156","Joubert syndrome 1, 213300","MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS (MORMS)"],"mode_of_inheritance":"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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Review of the literature from Stephanie Barton (Manchester) - L Bielas et al (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41:1032-1036","Wang et al (2015) Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.Invest Ophthalmol Vis Sci.  Jun","56(6):3642-55","Travaglini et al (2013) Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet.  Oct","21(10):1074-8- Several other papers on HGMD."],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Genetic Retinal Degeneration Conditions"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30055837","23386033","23022135"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Joubert syndrome","Joubert syndrome 1, 213300","Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23386033","26748598"],"evidence":["Other","Expert Review Green","Expert list"],"phenotypes":["Joubert syndrome","Joubert syndrome 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":"568ea01e22c1fc1c78b6715d","name":"Rare multisystem ciliopathy disorders","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.121","version_created":"2019-09-26T13:15:06.802957Z","relevant_disorders":["Joubert syndrome","Bardet-Biedl Syndrome"],"stats":{"number_of_genes":201,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23386033","26748598"],"evidence":["Expert Review Green","Expert list","Other"],"phenotypes":["Joubert syndrome","Joubert syndrome 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":722,"hash_id":null,"name":"Ophthalmological ciliopathies","disease_group":"","disease_sub_group":"","status":"public","version":"0.11","version_created":"2019-10-02T08:36:04.464711Z","relevant_disorders":[],"stats":{"number_of_genes":89,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23386033","26748598"],"evidence":["Expert Review Green"],"phenotypes":["Joubert syndrome","Joubert syndrome 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":724,"hash_id":null,"name":"Neurological ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"0.7","version_created":"2019-10-02T08:39:13.157240Z","relevant_disorders":[],"stats":{"number_of_genes":57,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23386033","26748598"],"evidence":["Expert Review Green","Expert list","Other"],"phenotypes":["Joubert syndrome","Joubert syndrome 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":725,"hash_id":null,"name":"Renal ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.0","version_created":"2019-09-03T15:05:56.297619Z","relevant_disorders":[],"stats":{"number_of_genes":91,"number_of_strs":0,"number_of_regions":2},"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"},{"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."}]}}]}