{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22094483","7709723"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":235,"hash_id":"55b7a0bb22c1fc05fd2345d1","name":"Distal myopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.11","version_created":"2019-06-20T15:15:01.364887Z","relevant_disorders":[],"stats":{"number_of_genes":27,"number_of_strs":2,"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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7709723","22094483"],"evidence":["Expert Review Green"],"phenotypes":["Emery-Dreifuss muscular dystrophy","Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27532257","28369730","30681346","20186852","22523091","29926425"],"evidence":["South West GLH","London South GLH","North West GLH","Expert Review Green","Expert list","UKGTN"],"phenotypes":["Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)","Myopathy, X-linked, with postural muscle atrophy (300696)","?Uruguay faciocardiomusculoskeletal syndrome (300280)","Scapuloperoneal myopathy, X-linked dominant (300695)","Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)","Emery-Dreifuss muscular dystrophy 6, X-linked (300696)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":49,"hash_id":"55a39e2d22c1fc6711b0c6b3","name":"Hypertrophic cardiomyopathy - teen and adult","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiomyopathy","status":"public","version":"1.77","version_created":"2019-10-02T12:51:19.933333Z","relevant_disorders":["Hypertrophic Cardiomyopathy","HCM","R131"],"stats":{"number_of_genes":70,"number_of_strs":1,"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)"}]}},{"gene_data":{"alias":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Oxford Medical Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Emery-Dreifuss muscular dystrophy"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"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"},{"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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19716112","18179888","19687455"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Scapuloperoneal myopathy, X-linked dominant, 300695","Myopathy, X-linked, with postural muscle atrophy, 300696","Myopathy, reducing body, X-linked, severe early-onset, 300717","Myopathy, reducing body, X-linked, childhood-onset, 300718","Emery-Dreifuss muscular dystrophy 6, X-linked, 300696"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["http://www.ncbi.nlm.nih.gov/pubmed/22523091"],"evidence":["South West GLH","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":749,"hash_id":null,"name":"Cardiomyopathies - including childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-16T12:01:25.928956Z","relevant_disorders":["Paediatric or syndromic cardiomyopathy","R135"],"stats":{"number_of_genes":180,"number_of_strs":0,"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":"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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27532257","28369730"],"evidence":["London South GLH","North West GLH","Expert Review Green","London South GLH","North West GLH","Expert Review Green"],"phenotypes":["?Uruguay faciocardiomusculoskeletal syndrome (300280)","Myopathy, X-linked, with postural muscle atrophy (300696)","Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)","Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)","Scapuloperoneal myopathy, X-linked dominant (300695)","Emery-Dreifuss muscular dystrophy 6, X-linked (300696)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":750,"hash_id":null,"name":"Sudden cardiac death","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-24T10:05:54.784946Z","relevant_disorders":["Molecular autopsy","R138"],"stats":{"number_of_genes":119,"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 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."}]}}]}
