{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["23992033"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3,"hash_id":"554a0ac9bb5a167e4ccd1ec1","name":"Stickler syndrome","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-08-01T09:23:50.385079Z","relevant_disorders":["R45"],"stats":{"number_of_genes":10,"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","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":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17632512","8266995","18553518"],"evidence":["Expert Review Green","Literature","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Donnai-Barrow syndrome,  222448"],"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":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["DONNAI-BARROW SYNDROME"],"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":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23033978"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["INTELLECTUAL DISABILITY","DONNAI-BARROW SYNDROME 222448"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Donnai-Barrow syndrome, 222448","INTELLECTUAL DISABILITY"],"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":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25682901","29388841","17632512"],"evidence":["NHS GMS","Expert Review Green","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["Donnai-Barrow syndrome 222448"],"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":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8266995","18553518","17632512"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Donnai-Barrow syndrome,  222448"],"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)"}]}}]}