{"count":15,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22351933"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Agammaglobulinemia 7, autosomal recessive 615214"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","UKGTN"],"phenotypes":["Inflammatory Bowel Disease (Very Early Onset)"],"mode_of_inheritance":"","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["SHORT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23810378"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":26,"hash_id":"55a9238422c1fc6711b0c6c3","name":"Diabetes with additional phenotypes suggestive of a monogenic aetiology","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.59","version_created":"2019-06-20T15:15:00.936648Z","relevant_disorders":[],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["23810382","23810379","23810378"],"evidence":["Expert Review Green","UKGTN","Literature"],"phenotypes":["SHORT syndrome\t269880"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":174,"hash_id":"55b2109c22c1fc7dd7ce411f","name":"Insulin resistance (including lipodystrophy)","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.11","version_created":"2019-06-20T15:15:09.915719Z","relevant_disorders":["Insulin resistance (including lipodystrophy"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23810378"],"evidence":["NHS GMS","Expert Review Green","Expert Review"],"phenotypes":["Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":152,"hash_id":"553f9745bb5a1616e5ed45e9","name":"Familial diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.38","version_created":"2019-06-20T15:15:02.453936Z","relevant_disorders":["Familial young-onset non-insulin-dependent diabetes"],"stats":{"number_of_genes":56,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22351933","9888855","25133428","25488983"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0","GOSH PID v.8.0","A- or hypo-gammaglobulinaemia v1.25"],"phenotypes":["Immunodeficiency 36","Agammaglobulinemia 7, autosomal recessive, 615214","SHORT syndrome, 269880","Immunodeficiency 36, 616005","Agammaglobulinemia 7","Immunodeficiency 36","Combined immunodeficiency","Activated PI3K-delta syndrome (APDS)","Agammaglobulinemia","immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)","Severe bacterial infections,  decreased or absent pro-B cells","Predominantly Antibody Deficiencies","Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","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":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23810378"],"evidence":["Expert Review Green","GDL Corneal Abnormalities panel"],"phenotypes":["SHORT syndrome \t269880"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":"553f979ebb5a1616e5ed45f6","name":"Corneal abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.7","version_created":"2019-04-01T14:16:45.925824Z","relevant_disorders":["Corneal abnormalities","Corneal dystrophy"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["23810378"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880","SHORT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":1},"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":"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":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["29556229"],"evidence":["Expert Review Green","NHS GMS","Expert Review"],"phenotypes":["Immunodeficiency 36, 616005","Bronchiectasis"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":550,"hash_id":null,"name":"Respiratory ciliopathies including non-CF bronchiectasis","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-27T18:48:31.875976Z","relevant_disorders":["R189"],"stats":{"number_of_genes":61,"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)"}]}},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","UKGTN","Expert list",""],"phenotypes":["SHORT syndrome 269880"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE","SHORT SYNDROME"],"mode_of_inheritance":"BOTH monoallelic and 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":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22351933"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["SHORT SYNDROME 269880","AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214"],"mode_of_inheritance":"BOTH monoallelic and 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":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["SHORT syndrome, 269880","SHORT"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"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":"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":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments ","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["?Agammaglobulinemia 7, autosomal recessive, 615214","SHORT","syndrome, 269880","Immunodeficiency 36, 616005"],"mode_of_inheritance":"BOTH monoallelic and 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"}]}}]}