{"count":24,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Meckel Syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":11,"hash_id":"57e3df7e8f62034b82c0d332","name":"Familial Neural Tube Defects","disease_group":"","disease_sub_group":"","status":"public","version":"1.5","version_created":"2017-11-05T02:37:19.836037Z","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["21845392","18371931","20007846","23686967"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Emory Genetics Laboratory"],"phenotypes":["Renal-hepatic-pancreatic dysplasia 208540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":385,"hash_id":null,"name":"Neonatal cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"Liver disease","status":"public","version":"1.4","version_created":"2019-06-20T15:13:26.764332Z","relevant_disorders":[],"stats":{"number_of_genes":90,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Renal-hepatic-pancreatic dysplasia 1 (208540)","Nephronophthisis 3 (604387)","Meckel syndrome 7 (267010)"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Renal-hepatic-pancreatic dysplasia 1, MIM 208540","Meckel syndrome 7, MIM 267010","Nephronopthisis 3 MIM 604387"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":548,"hash_id":null,"name":"Tubulointerstitial kidney disease","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-03T13:37:53.887259Z","relevant_disorders":["R202"],"stats":{"number_of_genes":25,"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert"],"phenotypes":["Ciliopathy genes associated with cystic kidney disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert"],"phenotypes":["Nephronophthisis 3, 604387","Renal-hepatic-pancreatic dysplasia 1, 208540","Meckel syndrome 7, 267010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["ciliopathies"],"mode_of_inheritance":"","tags":[],"panel":{"id":178,"hash_id":"55a76be222c1fc6710839b9f","name":"Primary ciliary disorders","disease_group":"Ciliopathies","disease_sub_group":"Respiratory ciliopathies","status":"public","version":"1.19","version_created":"2019-06-20T15:15:15.426107Z","relevant_disorders":["Primary ciliary dyskinesia"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen","Expert list","Illumina TruGenome Clinical Sequencing Services","","Emory Genetics Laboratory"],"phenotypes":["Meckel syndrome 7 267010"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Nephronophthisis 3, 604387","Renal-hepatic-pancreatic dysplasia 1, 208540","Meckel syndrome 7, 267010","Renal-Hepatic-Pancreatic Dysplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Ciliopathy genes associated with cystic kidney disease","Renal-hepatic-pancreatic dysplasia 1, 208540","Nephronophthisis 3, 604387","Renal-Hepatic-Pancreatic Dysplasia","Meckel syndrome 7, 267010","Nephronophthisis 3, 604387","Renal-hepatic-pancreatic dysplasia 1, 208540","Meckel syndrome 7, 267010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green"],"phenotypes":["Meckel syndrome 7, 267010","Renal-Hepatic-Pancreatic Dysplasia","Ciliopathy genes associated with cystic kidney disease","Nephronophthisis 3, 604387","Renal-hepatic-pancreatic dysplasia 1, 208540"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MECKEL SYNDROME TYPE 7","RENAL-HEPATIC-PANCREATIC DYSPLASIA","NEPHRONOPHTHISIS TYPE 3"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19303681","12872122"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["NEPHRONOPHTHISIS TYPE 3 604387","RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540","MECKEL SYNDROME TYPE 7 267010"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Nephronophthisis 3, 604387","Renal-hepatic-pancreatic dysplasia 1, 208540","Meckel syndrome 7, 267010"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Publications in OMIM","homozygous and compound heterozygous mutations in patients with Meckel syndrome. Multiple publications on HGMD of both missense and loss of function mutations in patients with nephronophthisis. Paper by Olbrich et al 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Nat Genet. 2003 Aug","34(4):455-9. Omran et al (2002) Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.J. Am. Soc. Nephrol. 13: 75-79","NPHP3 mutations have been linked to Senior-Loken syndrome, which involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis."],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Eye Disorders"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["604387","Eye Disorders","Nephronophthisis 3","Meckel syndrome 7","Renal-hepatic-pancreatic dysplasia 1","267010","208540"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Orphanet","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Meckel syndrome 7, 267010","Nephronophthisis 3, 604387","Renal-hepatic-pancreatic dysplasia 1, 208540","Nephronophthisis","Renal-hepatic-pancreatic dysplasia","Senior-Loken 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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert review green","Literature"],"phenotypes":["MIM 604387","Nephronophthisis 3","Nephropathy of unknown origin","Glomerulopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}},{"gene_data":{"alias":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Illumina TruGenome Clinical Sequencing Services","Expert Review Green","Orphanet","Radboud University Medical Center, Nijmegen","UKGTN","Expert list","Emory Genetics Laboratory"],"phenotypes":["Renal-hepatic-pancreatic dysplasia","Senior-Loken syndrome","Nephronophthisis 3, 604387","Meckel syndrome 7, 267010","Renal-hepatic-pancreatic dysplasia 1, 208540","Nephronophthisis"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Renal-hepatic-pancreatic dysplasia","Senior-Loken syndrome","Nephronophthisis 3, 604387","Meckel syndrome 7, 267010","Renal-hepatic-pancreatic dysplasia 1, 208540","Nephronophthisis"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Illumina TruGenome Clinical Sequencing Services","Expert Review Green","Orphanet","Radboud University Medical Center, Nijmegen","UKGTN","Expert list","Emory Genetics Laboratory"],"phenotypes":["Renal-hepatic-pancreatic dysplasia","Senior-Loken syndrome","Nephronophthisis 3, 604387","Meckel syndrome 7, 267010","Renal-hepatic-pancreatic dysplasia 1, 208540","Nephronophthisis"],"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."}]}}]}