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"2024-04-02T14:16:57.842089Z", "relevant_disorders": [ "Infantile enterocolitis and monogenic inflammatory bowel disease" ], "stats": { "number_of_genes": 69, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp586C1924", "OPA7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25382", "gene_name": "transmembrane protein 126A", "omim_gene": [ "612988" ], "alias_name": null, "gene_symbol": "TMEM126A", "hgnc_symbol": "TMEM126A", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "11:85359011-85367591", "ensembl_id": "ENSG00000171202" } }, "GRch38": { "90": { "location": "11:85647967-85656547", "ensembl_id": "ENSG00000171202" } } }, "hgnc_date_symbol_changed": "2006-02-13" }, "entity_type": "gene", "entity_name": "TMEM126A", "confidence_level": "1", "penetrance": "Complete", 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"relevant_disorders": [ "Young adult onset cancer", "Exceptionally young adult onset cancer", "Multiple Tumours", "Rare tumour predisposition syndromes" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "VPS4", "VPS4-1", "FLJ22197", "SKD2", "SKD1", "SKD1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13488", "gene_name": "vacuolar protein sorting 4 homolog A", "omim_gene": [ "609982" ], "alias_name": null, "gene_symbol": "VPS4A", "hgnc_symbol": "VPS4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:69345259-69358949", "ensembl_id": "ENSG00000132612" } }, "GRch38": { "90": { "location": "16:69311356-69326939", "ensembl_id": "ENSG00000132612" } } }, "hgnc_date_symbol_changed": "2002-06-12" }, "entity_type": "gene", "entity_name": "VPS4A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17928862", "30615963" ], "evidence": [ "OMIM" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 111, "hash_id": "58c7fd7f8f6203413360f1b6", "name": "COVID-19 research", "disease_group": "Viral research", "disease_sub_group": "", "status": "public", "version": "1.141", "version_created": "2024-01-04T14:08:43.065350Z", "relevant_disorders": [ "Viral susceptibility" ], "stats": { "number_of_genes": 695, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11712" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25671", "gene_name": "ribonuclease H2 subunit B", "omim_gene": [ "610326" ], "alias_name": null, "gene_symbol": "RNASEH2B", "hgnc_symbol": "RNASEH2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:51483814-51544592", "ensembl_id": "ENSG00000136104" } }, "GRch38": { "90": { "location": "13:50909678-50973745", "ensembl_id": "ENSG00000136104" } } }, "hgnc_date_symbol_changed": "2006-08-17" }, "entity_type": "gene", "entity_name": "RNASEH2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "IUIS Classification February 2018", "London North GLH", "NHS GMS", "GRID V2.0", "Victorian Clinical Genetics Services", "North West GLH", "ESID Registry 20171117", "Expert Review Green", "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" ], "phenotypes": [ "Aicardi-Goutieres syndrome 2 610181", "Autoinflammatory Disorders", "Type 1 interferonopathies", "Classical AGS, SP" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 111, "hash_id": "58c7fd7f8f6203413360f1b6", "name": "COVID-19 research", "disease_group": "Viral research", "disease_sub_group": "", "status": "public", "version": "1.141", "version_created": "2024-01-04T14:08:43.065350Z", "relevant_disorders": [ "Viral susceptibility" ], "stats": { "number_of_genes": 695, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "NY-REN-64" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17967", "gene_name": "interleukin 1 receptor associated kinase 4", "omim_gene": [ "606883" ], "alias_name": null, "gene_symbol": "IRAK4", "hgnc_symbol": "IRAK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:44152747-44183346", "ensembl_id": "ENSG00000198001" } }, "GRch38": { "90": { "location": "12:43758944-43789543", "ensembl_id": "ENSG00000198001" } } }, "hgnc_date_symbol_changed": "2002-09-27" }, "entity_type": "gene", "entity_name": "IRAK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17878374", "17114497", "12637671", "16950813" ], "evidence": [ "IUIS Classification February 2018", "London North GLH", "NHS GMS", "GRID V2.0", "Victorian Clinical Genetics Services", "North West GLH", "ESID Registry 20171117", "Expert Review Green", "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" ], "phenotypes": [ "Defects with susceptibility to mycobacterial infection (MSMD)", "Defects of TLR/NFkappa-B signalling", "Invasive pneumococcal disease, recurrent isolated, 1, 6107", "IRAK4 deficiency, 610799", "Defects in Intrinsic and Innate Immunity", "Bacterial infections (pyogens)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 111, "hash_id": "58c7fd7f8f6203413360f1b6", "name": "COVID-19 research", "disease_group": "Viral research", "disease_sub_group": "", "status": "public", "version": "1.141", "version_created": "2024-01-04T14:08:43.065350Z", "relevant_disorders": [ "Viral susceptibility" ], "stats": { "number_of_genes": 695, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "DP3", "PDGB", "PKGB", "DPIII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6207", "gene_name": "junction plakoglobin", "omim_gene": [ "173325" ], "alias_name": null, "gene_symbol": "JUP", "hgnc_symbol": "JUP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39775692-39943183", "ensembl_id": "ENSG00000173801" } }, "GRch38": { "90": { "location": "17:41754604-41786931", "ensembl_id": "ENSG00000173801" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "JUP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20130592", "10902626", "21668431" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Naxos disease, OMIM:601214" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 555, "hash_id": null, "name": "Ichthyosis and erythrokeratoderma", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.28", "version_created": "2024-04-10T20:26:35.419194Z", "relevant_disorders": [ "R165" ], "stats": { "number_of_genes": 77, "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 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." }, { "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." } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6416", "gene_name": "keratin 14", "omim_gene": [ "148066" ], "alias_name": [ "epidermolysis bullosa simplex, Dowling-Meara, Koebner" ], "gene_symbol": "KRT14", "hgnc_symbol": "KRT14", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "17:39738531-39743173", "ensembl_id": "ENSG00000186847" } }, "GRch38": { "90": { "location": "17:41582279-41586921", "ensembl_id": "ENSG00000186847" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "KRT14", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "1717157", "10733662", "1720261", "7682883", "7506606", "16098032", "12485428", "16960809", "7526933", "7525408", "7561171" ], "evidence": [ "Expert Review Green", "UKGTN", "Radboud University Medical Center, Nijmegen", "Eligibility statement prior genetic testing" ], "phenotypes": [ "Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760", "Epidermolysis bullosa simplex, Koebner type (AD), 131900", "Epidermolysis Bullosa Simplex, Generalized", "Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800", "Epidermolysis Bullosa Simplex, Localized", "Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000", "Epidermolysis bullosa simplex, recessive 1 (AR), 601001", "Dermatopathia pigmentosa reticularis (AD), 125595" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 119, "hash_id": "56310b9a22c1fc58285b282c", "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "Skin fragility disorders", "status": "public", "version": "1.11", "version_created": "2022-10-10T11:18:50.450537Z", "relevant_disorders": [], "stats": { "number_of_genes": 21, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "KEN", "KIAA0402", "PCN", "PCNTB", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16068", "gene_name": "pericentrin", "omim_gene": [ "605925" ], "alias_name": [ "kendrin", "Seckel syndrome 4" ], "gene_symbol": "PCNT", "hgnc_symbol": "PCNT", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "21:47744036-47865682", "ensembl_id": "ENSG00000160299" } }, "GRch38": { "90": { "location": "21:46324122-46445769", "ensembl_id": "ENSG00000160299" } } }, "hgnc_date_symbol_changed": "2005-11-03" }, "entity_type": "gene", "entity_name": "PCNT", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "21270239" ], "evidence": [ "Expert Review Green", "Emory Genetics Laboratory", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services", "UKGTN", "Literature" ], "phenotypes": [ "Microcephalic osteodysplastic primordial dwarfism, type II\t210720", "Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2", "Severe Insulin Resistance" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.16", "version_created": "2023-05-17T11:38:58.881007Z", "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" } ] }, "transcript": null }, { "gene_data": { "alias": [ "CANP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24200", "gene_name": "family with sequence similarity 111 member B", "omim_gene": [ "615584" ], "alias_name": null, "gene_symbol": "FAM111B", "hgnc_symbol": "FAM111B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:58874658-58894883", "ensembl_id": "ENSG00000189057" } }, "GRch38": { "90": { "location": "11:59107185-59127410", "ensembl_id": "ENSG00000189057" } } }, "hgnc_date_symbol_changed": "2006-02-06" }, "entity_type": "gene", "entity_name": "FAM111B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24268661" ], "evidence": [ "Expert Review Red" ], "phenotypes": [ "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 465, "hash_id": null, "name": "Other rare neuromuscular disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "19.202", "version_created": "2024-04-03T11:24:49.009776Z", "relevant_disorders": [ "Neuromuscular disorders", "R381" ], "stats": { "number_of_genes": 458, "number_of_strs": 7, "number_of_regions": 8 }, "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease 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