{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["BB1","hMBOA-7","LPIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:15505","gene_name":"membrane bound O-acyltransferase domain containing 7","omim_gene":["606048"],"alias_name":["lysophosphatidylinositol acyltransferase"],"gene_symbol":"MBOAT7","hgnc_symbol":"MBOAT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54677107-54693733","ensembl_id":"ENSG00000125505"}},"GRch38":{"90":{"location":"19:54173412-54189882","ensembl_id":"ENSG00000125505"}}},"hgnc_date_symbol_changed":"2008-01-17"},"entity_type":"gene","entity_name":"MBOAT7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20212079","26185613","23042784","24267887","26166478","25989142","24090431","24581740","26167905","23999528","25294932"],"evidence":["Expert Review Amber","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":["BB1","hMBOA-7","LPIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:15505","gene_name":"membrane bound O-acyltransferase domain containing 7","omim_gene":["606048"],"alias_name":["lysophosphatidylinositol acyltransferase"],"gene_symbol":"MBOAT7","hgnc_symbol":"MBOAT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54677107-54693733","ensembl_id":"ENSG00000125505"}},"GRch38":{"90":{"location":"19:54173412-54189882","ensembl_id":"ENSG00000125505"}}},"hgnc_date_symbol_changed":"2008-01-17"},"entity_type":"gene","entity_name":"MBOAT7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["Intellectual Disability Accompanied by Epilepsy and Autistic Features"],"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":["BB1","hMBOA-7","LPIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:15505","gene_name":"membrane bound O-acyltransferase domain containing 7","omim_gene":["606048"],"alias_name":["lysophosphatidylinositol acyltransferase"],"gene_symbol":"MBOAT7","hgnc_symbol":"MBOAT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54677107-54693733","ensembl_id":"ENSG00000125505"}},"GRch38":{"90":{"location":"19:54173412-54189882","ensembl_id":"ENSG00000125505"}}},"hgnc_date_symbol_changed":"2008-01-17"},"entity_type":"gene","entity_name":"MBOAT7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27616480"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["Intellectual Disability Accompanied by Epilepsy and Autistic Features"],"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":["BB1","hMBOA-7","LPIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:15505","gene_name":"membrane bound O-acyltransferase domain containing 7","omim_gene":["606048"],"alias_name":["lysophosphatidylinositol acyltransferase"],"gene_symbol":"MBOAT7","hgnc_symbol":"MBOAT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54677107-54693733","ensembl_id":"ENSG00000125505"}},"GRch38":{"90":{"location":"19:54173412-54189882","ensembl_id":"ENSG00000125505"}}},"hgnc_date_symbol_changed":"2008-01-17"},"entity_type":"gene","entity_name":"MBOAT7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Wessex and West Midlands GLH","NHS GMS","Victorian Clinical Genetics Services","Expert Review Green","Expert Review"],"phenotypes":["Mental retardation, autosomal recessive 57 617188"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":["BB1","hMBOA-7","LPIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:15505","gene_name":"membrane bound O-acyltransferase domain containing 7","omim_gene":["606048"],"alias_name":["lysophosphatidylinositol acyltransferase"],"gene_symbol":"MBOAT7","hgnc_symbol":"MBOAT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54677107-54693733","ensembl_id":"ENSG00000125505"}},"GRch38":{"90":{"location":"19:54173412-54189882","ensembl_id":"ENSG00000125505"}}},"hgnc_date_symbol_changed":"2008-01-17"},"entity_type":"gene","entity_name":"MBOAT7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27616480","23097495"],"evidence":["Victorian Clinical Genetics Services","Gene2Phenotype","Expert Review Green","Expert Review Green"],"phenotypes":["Mental retardation, autosomal recessive 57, 617188","Intellectual Disability Accompanied by Epilepsy and Autistic Features","Autosomal recessive non-syndromic 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"}]}}]}