{"count":14,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Joubert syndrome 21 \t615636","ORPHA:475  Joubert syndrome","ORPHA:397715  Joubert syndrome with Jeune asphyxiating thoracic dystrophy","ORPHA:564  Meckel syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":122,"hash_id":"554a0ac9bb5a167e4ccd1ec2","name":"Thoracic dystrophies","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.7","version_created":"2019-01-15T15:21:46.685111Z","relevant_disorders":[],"stats":{"number_of_genes":133,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Radboud University Medical Center, Nijmegen"],"phenotypes":["Joubert syndrome 21 (615636)"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24360808","24360803"],"evidence":["NHS GMS","Expert Review Green","Other"],"phenotypes":["Joubert syndrome 21 615636","ORPHA:397715  Joubert syndrome with Jeune asphyxiating thoracic dystrophy","ORPHA:397715  Joubert syndrome with Jeune asphyxiating thoracic dystrophy","Joubert syndrome 21 \t615636","ORPHA:475  Joubert syndrome","ORPHA:564  Meckel syndrome","ORPHA:475  Joubert syndrome","ORPHA:564  Meckel syndrome"],"mode_of_inheritance":"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360807","24360803","24360808"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Meckel syndrome","Joubert syndrome 21","Joubert syndrome","Meckel-Gruber syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360808"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24360808"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Genetic Retinal Degeneration Conditions","Joubert syndrome 21"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","NHS GMS","London North GLH"],"phenotypes":["Joubert syndrome 21, 615636"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24360808","24360807","24360803"],"evidence":["Other","Orphanet","Expert Review Green","Expert list"],"phenotypes":["Joubert syndrome","Meckel-Gruber syndrome","Joubert syndrome 21","Meckel syndrome"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360807","24360803","24360808"],"evidence":["Orphanet","Expert Review Green","Expert list","Other"],"phenotypes":["Joubert syndrome","Meckel syndrome","Joubert syndrome 21","Meckel-Gruber syndrome"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360807","24360803","24360808"],"evidence":["Expert Review Green"],"phenotypes":["Joubert syndrome","Meckel syndrome","Joubert syndrome 21","Meckel-Gruber syndrome"],"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":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360807","24360803","24360808"],"evidence":["Orphanet","Expert Review Green","Expert list","Other"],"phenotypes":["Joubert syndrome","Meckel syndrome","Joubert syndrome 21","Meckel-Gruber syndrome"],"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."}]}}]}