{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20929727"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Acne inversa, familial, 3, 613737"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":23,"hash_id":"5885e9db8f620309044f8a0a","name":"Familial hidradenitis suppurativa","disease_group":"Dermatological disorders","disease_sub_group":"Skin adnexa disorders","status":"public","version":"1.1","version_created":"2017-11-05T02:37:19.861127Z","relevant_disorders":[],"stats":{"number_of_genes":11,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22503161","23028126"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Acne inversa, familial, 3, 613737","Alzheimer disease, type 3, 607822","Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822","Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822","Cardiomyopathy, dilated, 1U, 613694","Dementia, frontotemporal, 600274","Pick disease, 172700","Clinical syndrome Alzheimer disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":265,"hash_id":"55b6173522c1fc05fc7a1855","name":"Early onset dementia (encompassing fronto-temporal dementia and prion disease)","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.48","version_created":"2019-06-20T15:15:01.659131Z","relevant_disorders":[],"stats":{"number_of_genes":31,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Dystonia"],"mode_of_inheritance":"","tags":[],"panel":{"id":192,"hash_id":"553f95c9bb5a1616e5ed45bf","name":"Early onset dystonia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.81","version_created":"2019-09-23T11:22:14.418180Z","relevant_disorders":[],"stats":{"number_of_genes":111,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Expert list","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Cardiomyopathy, dilated, 1U"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":47,"hash_id":"55a4d99022c1fc6710839b84","name":"Dilated Cardiomyopathy and conduction defects","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiomyopathy","status":"public","version":"1.63","version_created":"2019-09-30T12:02:00.646768Z","relevant_disorders":["Dilated Cardiomyopathy","Dilated Cardiomyopathy (DCM)","Dilated cardiomyopathy - teen and adult"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["20929727"],"evidence":["Expert Review Red","IUIS Classification February 2018"],"phenotypes":["Hidradenitis suppurative with cutaneous hyperpigmentation","Defects in Intrinsic and Innate Immunity","Acne inversa, familial, 3 613737"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"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."}]}},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Dystonia"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":475,"hash_id":null,"name":"Dystonia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-09-09T13:17:58.240159Z","relevant_disorders":[],"stats":{"number_of_genes":176,"number_of_strs":7,"number_of_regions":1},"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":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Alzheimer disease, type 3, with spastic paraparesis and apraxia","Alzheimer disease, type 3, with spastic paraparesis and unusual plaques"],"mode_of_inheritance":"","tags":[],"panel":{"id":165,"hash_id":"55ad019f22c1fc7042059038","name":"Hereditary spastic paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.205","version_created":"2019-06-20T15:15:08.031188Z","relevant_disorders":[],"stats":{"number_of_genes":109,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Yorkshire and North East GLH","Expert Review Red","NHS GMS","London North GLH","Radboud University Medical Center, Nijmegen"],"phenotypes":["Alzheimer disease, type 3, with spastic paraparesis and apraxia","Alzheimer disease, type 3, with spastic paraparesis and unusual plaques"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":568,"hash_id":null,"name":"Hereditary spastic paraplegia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.179","version_created":"2019-09-30T12:40:08.803161Z","relevant_disorders":["Childhood onset hereditary spastic paraplegia;R61"],"stats":{"number_of_genes":98,"number_of_strs":10,"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":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22517194"],"evidence":["Yorkshire and North East GLH","South West GLH","Expert Review Green","NHS GMS","London North GLH"],"phenotypes":["Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques","Alzheimer disease, type 3, with spastic paraparesis and apraxia","Alzheimer disease, type 3, with spastic paraparesis and unusual plaques"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":567,"hash_id":null,"name":"Hereditary spastic paraplegia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-30T12:38:14.427158Z","relevant_disorders":["R60"],"stats":{"number_of_genes":97,"number_of_strs":10,"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)"}]}},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16033913","23028126","7596406","22503161"],"evidence":["Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Acne inversa, familial, 3, 613737","Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822","Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822","Alzheimer disease, type 3, with spastic paraparesis and unusual plaques","Dystonia","Dementia, frontotemporal, 600274","Pick disease, 172700","Clinical syndrome Alzheimer disease","Alzheimer disease, type 3, 607822","Cardiomyopathy, dilated, 1U, 613694","Alzheimer disease, type 3, with spastic paraparesis and apraxia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26503795","26539891"],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Alzheimer disease, type 3, 607822","Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822","Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822","Dementia, frontotemporal, 600274","Pick disease, 172700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29316780","28664294"],"evidence":["NHS GMS","South West GLH","Expert Review Red"],"phenotypes":["Pick disease, 172700","Dementia, frontotemporal 600274","Alzheimer disease, type 3, 607822","Cardiomyopathy, dilated, 1U, 613694","Dystonia"],"mode_of_inheritance":"","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"number_of_regions":1},"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)"}]}}]}