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"FOXE1", "hgnc_symbol": "FOXE1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "9:100615536-100618986", "ensembl_id": "ENSG00000178919" } }, "GRch38": { "90": { "location": "9:97853254-97856715", "ensembl_id": "ENSG00000178919" } } }, "hgnc_date_symbol_changed": "1997-02-14" }, "entity_type": "gene", "entity_name": "FOXE1", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "25381600" ], "evidence": [ "Expert Review Amber", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "{Thyroid cancer, nonmedullary, 4} 616534" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 171, "hash_id": "576cd7ca8f6203609632be82", "name": "Inherited non-medullary thyroid cancer", "disease_group": "Tumour syndromes", "disease_sub_group": "Breast and endocrine", "status": "public", "version": "1.7", "version_created": "2023-11-07T12:37:18.457761Z", "relevant_disorders": [], "stats": { "number_of_genes": 30, "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": [ "SCF", "SF", "Kitl", "KL-1", "FPH2", "SLF", "DFNA69" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6343", "gene_name": "KIT ligand", "omim_gene": [ "184745" ], "alias_name": [ "mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2" ], "gene_symbol": "KITLG", "hgnc_symbol": "KITLG", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "12:88886570-88974628", "ensembl_id": "ENSG00000049130" } }, "GRch38": { "90": { "location": "12:88492793-88580851", "ensembl_id": "ENSG00000049130" } } }, "hgnc_date_symbol_changed": "1991-06-04" }, "entity_type": "gene", "entity_name": "KITLG", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hyperpigmentation with or without hypopigmentation, 145250" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 255, "hash_id": "57c5b45b8f62030d5014a949", "name": "Neurofibromatosis Type 1", "disease_group": "Tumour syndromes", "disease_sub_group": "Muscle and nerve", "status": "public", "version": "1.32", "version_created": "2022-10-13T15:59:47.914940Z", "relevant_disorders": [], "stats": { "number_of_genes": 30, "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": [ "LCB1", "SPTI", "HSAN1", "hLCB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11277", "gene_name": "serine palmitoyltransferase long chain base subunit 1", "omim_gene": [ "605712" ], "alias_name": null, "gene_symbol": "SPTLC1", "hgnc_symbol": "SPTLC1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "9:94794281-94877666", "ensembl_id": "ENSG00000090054" } }, "GRch38": { "90": { "location": "9:92031999-92115384", "ensembl_id": "ENSG00000090054" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "SPTLC1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "19651702", "11242114", "19132419" ], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services", "Emory Genetics Laboratory", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Neuropathy, hereditary sensory and autonomic, type IA\t162400" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 7, "hash_id": "5763f1d68f620350a22bccdc", "name": "Familial dysautonomia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.17", "version_created": "2022-04-05T10:52:55.518732Z", "relevant_disorders": [], "stats": { "number_of_genes": 23, "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": [ "CD230", "PRP", "AltPrP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9449", "gene_name": "prion protein", "omim_gene": [ "176640" ], "alias_name": [ "Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30" ], "gene_symbol": "PRNP", "hgnc_symbol": "PRNP", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "20:4666882-4682236", "ensembl_id": "ENSG00000171867" } }, "GRch38": { "90": { "location": "20:4686236-4701590", "ensembl_id": "ENSG00000171867" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PRNP", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "1439789", "16227536" ], "evidence": [ "Expert Review Amber", "UKGTN", "Illumina TruGenome Clinical Sequencing Services", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Insomnia, fatal familial\t600072" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 7, "hash_id": "5763f1d68f620350a22bccdc", "name": "Familial dysautonomia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.17", "version_created": "2022-04-05T10:52:55.518732Z", "relevant_disorders": [], "stats": { "number_of_genes": 23, "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": [ "TACI", "CD267", "IGAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18153", "gene_name": "TNF receptor superfamily member 13B", "omim_gene": [ "604907" ], "alias_name": null, "gene_symbol": "TNFRSF13B", "hgnc_symbol": "TNFRSF13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:16832849-16875432", "ensembl_id": "ENSG00000240505" } }, "GRch38": { "90": { "location": "17:16929816-16972118", "ensembl_id": "ENSG00000240505" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "TNFRSF13B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29114388", "28834165", "16007086", "16007087", "32086639", "18981294", "32048120" ], "evidence": [ "Expert Review Green", "IUIS Classification February 2018", "A- or hypo-gammaglobulinaemia v1.25", "GOSH PID v.8.0", "GRID V2.0", "IUIS Classification December 2019", "Victorian Clinical Genetics Services", "ESID Registry 20171117", "IUIS Classification December 2019", "IUIS Classification February 2018", "Victorian Clinical Genetics Services", "ESID Registry 20171117", "GRID V2.0", "GOSH PID v.8.0", "A- or hypo-gammaglobulinaemia v1.25" ], "phenotypes": [ "IgA with IgG subclass deficiency", "Immunodeficiency, common variable, 2", "Immunodeficiency, common variable, 2, 240500", "Variable clinical expression", "Isolated IgG subclass deficiency", "IGAD", "Selective IgA deficiency", "Common variable immunodeficiency disorders (CVID)", "Predominantly Antibody Deficiencies", "Immunoglobulin A deficiency 2, 609529", "CVID" ], "mode_of_inheritance": "BOTH monoallelic and 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": "1.142", "version_created": "2024-04-24T16:30:10.989811Z", "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": [ "AIF", "CMTX4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8768", "gene_name": "apoptosis inducing factor mitochondria associated 1", "omim_gene": [ "300169" ], "alias_name": null, "gene_symbol": "AIFM1", "hgnc_symbol": "AIFM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:129263337-129299861", "ensembl_id": "ENSG00000156709" } }, "GRch38": { "90": { "location": "X:130129362-130165887", "ensembl_id": "ENSG00000156709" } } }, "hgnc_date_symbol_changed": "2006-11-16" }, "entity_type": "gene", "entity_name": "AIFM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28842795", "27102849", "33439541" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert list" ], "phenotypes": [ "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 476, "hash_id": null, "name": "White matter disorders and cerebral calcification - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.35", "version_created": "2024-04-15T09:49:29.279545Z", "relevant_disorders": [], "stats": { "number_of_genes": 244, "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" }, { "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "GroEL", "HSP60" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5261", "gene_name": "heat shock protein family D (Hsp60) member 1", "omim_gene": [ "118190" ], "alias_name": null, "gene_symbol": "HSPD1", "hgnc_symbol": "HSPD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:198351305-198381461", "ensembl_id": "ENSG00000144381" } }, "GRch38": { "90": { "location": "2:197486581-197516737", "ensembl_id": "ENSG00000144381" } } }, "hgnc_date_symbol_changed": "1991-07-19" }, "entity_type": "gene", "entity_name": "HSPD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18571143", "27405012", "32532876", "28377887" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 4, OMIM:612233" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 476, "hash_id": null, "name": "White matter disorders and cerebral calcification - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.35", "version_created": "2024-04-15T09:49:29.279545Z", "relevant_disorders": [], "stats": { "number_of_genes": 244, "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" }, { "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "UBF", "NOR-90", "UBF1", "UBF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12511", "gene_name": "upstream binding transcription factor, RNA polymerase I", "omim_gene": [ "600673" ], "alias_name": null, "gene_symbol": "UBTF", "hgnc_symbol": "UBTF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42282401-42298994", "ensembl_id": "ENSG00000108312" } }, "GRch38": { "90": { "location": "17:44205033-44221626", "ensembl_id": "ENSG00000108312" } } }, "hgnc_date_symbol_changed": "1993-11-25" }, "entity_type": "gene", "entity_name": "UBTF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "28777933", "29300972", "30517966", "31931739" ], "evidence": [ "NHS GMS", "Expert Review Green", "Expert list" ], "phenotypes": [ "Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 477, "hash_id": null, "name": "Ataxia and cerebellar anomalies - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.64", "version_created": "2024-04-23T13:36:12.679484Z", "relevant_disorders": [], "stats": { "number_of_genes": 295, "number_of_strs": 14, "number_of_regions": 4 }, "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" }, { "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "NY-REN-55", "KIAA1901" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7744", "gene_name": "NIMA related kinase 1", "omim_gene": [ "604588" ], "alias_name": null, "gene_symbol": "NEK1", "hgnc_symbol": "NEK1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "4:170314426-170533780", "ensembl_id": "ENSG00000137601" } }, "GRch38": { "90": { "location": "4:169392857-169612629", "ensembl_id": "ENSG00000137601" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "NEK1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Emory Genetics Laboratory", "Illumina TruGenome Clinical Sequencing Services", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Short rib-polydactyly syndrome, type IIA, 263520", "Short Rib Polydactyly Syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 122, "hash_id": "554a0ac9bb5a167e4ccd1ec2", "name": "Thoracic dystrophies", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.20", "version_created": "2024-04-09T15:06:28.929893Z", "relevant_disorders": [], "stats": { "number_of_genes": 133, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "BUBR1", "MAD3L", "Bub1A", "SSK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1149", "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B", "omim_gene": [ "602860" ], "alias_name": null, "gene_symbol": "BUB1B", "hgnc_symbol": "BUB1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40453224-40513337", "ensembl_id": "ENSG00000156970" } }, "GRch38": { "90": { "location": "15:40161023-40221136", "ensembl_id": "ENSG00000156970" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "BUB1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mosaic variegated aneuploidy syndrome 1, 257300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 290, "hash_id": "55b7337f22c1fc05fd2345ba", "name": "Familial rhabdomyosarcoma", "disease_group": "Tumour syndromes", "disease_sub_group": "Muscle and nerve", "status": "public", "version": "1.5", "version_created": "2022-04-07T13:49:42.111311Z", "relevant_disorders": [ "Familial rhabdomyosarcoma or sarcoma", "Familial rhabdoid tumours" ], "stats": { "number_of_genes": 18, "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": [ "Hek8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3388", "gene_name": "EPH receptor A4", "omim_gene": [ "602188" ], "alias_name": null, "gene_symbol": "EPHA4", "hgnc_symbol": "EPHA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:222282747-222438922", "ensembl_id": "ENSG00000116106" } }, "GRch38": { "90": { "location": "2:221418027-221574202", "ensembl_id": "ENSG00000116106" } } }, "hgnc_date_symbol_changed": "1992-10-02" }, "entity_type": "gene", "entity_name": "EPHA4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 384, "hash_id": null, "name": "Limb disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.21", 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"location": "X:67544032-67730619", "ensembl_id": "ENSG00000169083" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "str", "entity_name": "AR_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinal and bulbar muscular atrophy or Kennedy diseases 313200" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "repeated_sequence": "CAG", "chromosome": "X", "grch37_coordinates": [ 66765160, 66765225 ], "grch38_coordinates": [ 67545316, 67545383 ], "normal_repeats": 34, "pathogenic_repeats": 38, "tags": [ "STR" ], "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 specialist group and processes to be signed-off for use within the GMS." } ] } } ] }