{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23472759","17525174"],"evidence":["ClinGen","Expert Review Amber","Other"],"phenotypes":["Lissencephaly 5","OrphaNet: 352682","OMIM:615191"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN"],"phenotypes":["Cerebral Malformation Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":147,"hash_id":"5819a24f8f6203341de99c89","name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Cerebrovascular disorders","status":"public","version":"1.47","version_created":"2019-09-13T13:47:21.970257Z","relevant_disorders":["Cerebrovascular disorders","Vein of Galen malformation","Cerebral arteriovenous malformations","Moyamoya disease"],"stats":{"number_of_genes":95,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23472759","25925986"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Lissencephaly 5"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":179,"hash_id":"5763f35c8f620350a22bccdf","name":"Hydrocephalus","disease_group":"","disease_sub_group":"","status":"public","version":"1.38","version_created":"2019-09-30T12:37:55.307389Z","relevant_disorders":["Hydrocephalus;R86"],"stats":{"number_of_genes":98,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25925986","17525174","23472759"],"evidence":["Expert Review Green"],"phenotypes":["Lissencephaly 5, 615191"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review"],"phenotypes":["Lissencephaly 5  615191"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":96,"hash_id":"568f8ba422c1fc1c79ca1774","name":"Malformations of cortical development","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"1.171","version_created":"2019-08-12T12:05:00.638492Z","relevant_disorders":[],"stats":{"number_of_genes":74,"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","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23472759","17525174","25925986"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Lissencephaly 5, 615191"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6486","gene_name":"laminin subunit beta 1","omim_gene":["150240"],"alias_name":null,"gene_symbol":"LAMB1","hgnc_symbol":"LAMB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:107564244-107643700","ensembl_id":"ENSG00000091136"}},"GRch38":{"90":{"location":"7:107923799-108003255","ensembl_id":"ENSG00000091136"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LAMB1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["0"],"evidence":["Expert Review Green"],"phenotypes":["COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES"],"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"}]}}]}
