Entity Search List
Search Entities
GET /api/v1/entities/?format=api&page=328
{ "count": 35330, "next": "https://panelapp.genomicsengland.co.uk/api/v1/entities/?format=api&page=329", "previous": "https://panelapp.genomicsengland.co.uk/api/v1/entities/?format=api&page=327", "results": [ { "gene_data": { "alias": [ "GTPCH1", "DYT5a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4193", "gene_name": "GTP cyclohydrolase 1", "omim_gene": [ "600225" ], "alias_name": [ "dopa-responsive dystonia" ], "gene_symbol": "GCH1", "hgnc_symbol": "GCH1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "14:55308726-55369570", "ensembl_id": "ENSG00000131979" } }, "GRch38": { "90": { "location": "14:54842008-54902852", "ensembl_id": "ENSG00000131979" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "GCH1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "20301334", "10732814", "942621", "945938", "6734669", "3762960", "3822637", "3400489", "3041760", "2296384", "1899474", "8163996", "7874165", "7869202", "7730309", "9667588", "10208576", "10987649", "11113234", "11346370", "12084887", "12552057", "15753436", "16908750", "17111153", "20301681", "27830117" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230", "Dopa-responsive dystonia", "Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910", "GTP-cyclohydrolase deficiency" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 219, "hash_id": "56ba025922c1fc5025762b4e", "name": "Neurotransmitter disorders", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Motor Disorders of the CNS", "status": "public", "version": "1.9", "version_created": "2021-04-01T15:08:40.081474Z", "relevant_disorders": [], "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": [ "RP39" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12601", "gene_name": "usherin", "omim_gene": [ "608400" ], "alias_name": null, "gene_symbol": "USH2A", "hgnc_symbol": "USH2A", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:215796236-216596738", "ensembl_id": "ENSG00000042781" } }, "GRch38": { "90": { "location": "1:215622894-216423396", "ensembl_id": "ENSG00000042781" } } }, "hgnc_date_symbol_changed": "1990-03-06" }, "entity_type": "gene", "entity_name": "USH2A", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Emory Genetics Laboratory" ], "phenotypes": [ "Eye Disorders" ], "mode_of_inheritance": "", "tags": [], "panel": { "id": 249, "hash_id": "55507b25bb5a161bf644a3b2", "name": "Glaucoma (developmental)", "disease_group": "Ophthalmological disorders", "disease_sub_group": "Anterior segment abnormalities", "status": "public", "version": "1.45", "version_created": "2024-02-20T15:55:53.657622Z", "relevant_disorders": [], "stats": { "number_of_genes": 232, "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": [ "DKFZP564J0863" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24526", "gene_name": "atlastin GTPase 3", "omim_gene": [ "609369" ], "alias_name": null, "gene_symbol": "ATL3", "hgnc_symbol": "ATL3", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "11:63391559-63439393", "ensembl_id": "ENSG00000184743" } }, "GRch38": { "90": { "location": "11:63624087-63671921", "ensembl_id": "ENSG00000184743" } } }, "hgnc_date_symbol_changed": "2008-09-17" }, "entity_type": "gene", "entity_name": "ATL3", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "24736309", "24459106" ], "evidence": [ "Expert Review Red", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Neuropathy, hereditary sensory, type IF\t615632" ], "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": [ "FLJ22187", "MGA3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8142", "gene_name": "OPA3, outer mitochondrial membrane lipid metabolism regulator", "omim_gene": [ "606580" ], "alias_name": null, "gene_symbol": "OPA3", "hgnc_symbol": "OPA3", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "19:46030685-46105470", "ensembl_id": "ENSG00000125741" } }, "GRch38": { "90": { "location": "19:45527427-45602212", "ensembl_id": "ENSG00000125741" } } }, "hgnc_date_symbol_changed": "1999-03-12" }, "entity_type": "gene", "entity_name": "OPA3", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "25201222", "11668429", "24944951", "25657044", "20301646" ], "evidence": [ "Expert Review Green", "Other", "Literature" ], "phenotypes": [ "3-methylglutaconic aciduria, type III, 258501", "Costeff syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 39, "hash_id": "58078e6e8f62030e233a8157", "name": "Parkinson Disease and Complex Parkinsonism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodegenerative disorders", "status": "public", "version": "1.121", "version_created": "2024-04-03T11:15:12.001752Z", "relevant_disorders": [ "Complex Parkinsonism (includes pallido-pyramidal syndromes)", "Early onset and familial Parkinson's Disease" ], "stats": { "number_of_genes": 71, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "B1", "Bp35", "MS4A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7315", "gene_name": "membrane spanning 4-domains A1", "omim_gene": [ "112210" ], "alias_name": null, "gene_symbol": "MS4A1", "hgnc_symbol": "MS4A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:60223225-60238233", "ensembl_id": "ENSG00000156738" } }, "GRch38": { "90": { "location": "11:60455752-60470760", "ensembl_id": "ENSG00000156738" } } }, "hgnc_date_symbol_changed": "1989-05-23" }, "entity_type": "gene", "entity_name": "MS4A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27250108", "32086639", "32048120", "20038800" ], "evidence": [ "Expert Review Green", "IUIS Classification February 2018", "IUIS Classification December 2019", "GRID V2.0", "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" ], "phenotypes": [ "Recurrent infections", "Common variable immunodeficiency disorders (CVID)", "Predominantly Antibody Deficiencies", "Immunodeficiency, common variable, 5 613495" ], "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": "1.142", "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": [ "CD64", "CD64A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3613", "gene_name": "Fc fragment of IgG receptor Ia", "omim_gene": [ "146760" ], "alias_name": [ "Fc gamma receptor Ia" ], "gene_symbol": "FCGR1A", "hgnc_symbol": "FCGR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:149754227-149764074", "ensembl_id": "ENSG00000150337" } }, "GRch38": { "90": { "location": "1:149782671-149792518", "ensembl_id": "ENSG00000150337" } } }, "hgnc_date_symbol_changed": "1992-12-03" }, "entity_type": "gene", "entity_name": "FCGR1A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "ESID Registry 20171117", "ESID Registry 20171117" ], "phenotypes": [ "Fc receptor deficiencies" ], "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": "1.142", "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": [ "TNF-R", "TNFAR", "TNFR60", "TNF-R-I", "CD120a", "TNF-R55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11916", "gene_name": "TNF receptor superfamily member 1A", "omim_gene": [ "191190" ], "alias_name": null, "gene_symbol": "TNFRSF1A", "hgnc_symbol": "TNFRSF1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6437923-6451280", "ensembl_id": "ENSG00000067182" } }, "GRch38": { "90": { "location": "12:6328757-6342114", "ensembl_id": "ENSG00000067182" } } }, "hgnc_date_symbol_changed": "1991-01-15" }, "entity_type": "gene", "entity_name": "TNFRSF1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11175303", "10199409", "10902757", "17360963" ], "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", "Expert Review Green", "IUIS Classification February 2018", "Victorian Clinical Genetics Services", "ESID Registry 20171117", "GRID V2.0" ], "phenotypes": [ "Periodic fever, familial, OMIM:142680", "TNF-receptor associated periodic fever syndrome (TRAPS)", "Recurrent fever, serositis, rash, and ocular or joint inflammation", "Autoinflammatory Disorders" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": [ "KIAA0990", "CSS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17198", "gene_name": "chondroitin sulfate synthase 1", "omim_gene": [ "608183" ], "alias_name": null, "gene_symbol": "CHSY1", "hgnc_symbol": "CHSY1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "15:101715928-101792137", "ensembl_id": "ENSG00000131873" } }, "GRch38": { "90": { "location": "15:101175723-101251932", "ensembl_id": "ENSG00000131873" } } }, "hgnc_date_symbol_changed": "2008-01-24" }, "entity_type": "gene", "entity_name": "CHSY1", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Emory Genetics Laboratory" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 101, "hash_id": "553f9598bb5a1616e5ed45ae", "name": "VACTERL-like phenotypes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Limb disorders", "status": "public", "version": "1.34", "version_created": "2023-05-03T11:13:26.293434Z", "relevant_disorders": [], "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" } ] }, "transcript": null }, { "gene_data": { "alias": [ "DYT18", "DYT9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11005", "gene_name": "solute carrier family 2 member 1", "omim_gene": [ "138140" ], "alias_name": null, "gene_symbol": "SLC2A1", "hgnc_symbol": "SLC2A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43391052-43424530", "ensembl_id": "ENSG00000117394" } }, "GRch38": { "90": { "location": "1:42925375-42959173", "ensembl_id": "ENSG00000117394" } } }, "hgnc_date_symbol_changed": "1994-11-18" }, "entity_type": "gene", "entity_name": "SLC2A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Dystonia 9, 601042", "GLUT1 deficiency syndrome 1, infantile onset, severe, 606777", "GLUT1 deficiency syndrome 2, childhood onset, 612126", "Stomatin-deficient cryohydrocytosis with neurologic defects, 608885" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "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": [ "B1", "PTHB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30000", "gene_name": "Bardet-Biedl syndrome 9", "omim_gene": [ "607968" ], "alias_name": [ "parathyroid hormone responsive B1 gene" ], "gene_symbol": "BBS9", "hgnc_symbol": "BBS9", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "7:33168856-33645680", "ensembl_id": "ENSG00000122507" } }, "GRch38": { "90": { "location": "7:33129244-33606068", "ensembl_id": "ENSG00000122507" } } }, "hgnc_date_symbol_changed": "2007-01-18" }, "entity_type": "gene", "entity_name": "BBS9", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Emory Genetics Laboratory" ], "phenotypes": [], "mode_of_inheritance": "", "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": [ "MMAC1", "TEP1", "PTEN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9588", "gene_name": "phosphatase and tensin homolog", "omim_gene": [ "601728" ], "alias_name": [ "mutated in multiple advanced cancers 1" ], "gene_symbol": "PTEN", "hgnc_symbol": "PTEN", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "10:89622870-89731687", "ensembl_id": "ENSG00000171862" } }, "GRch38": { "90": { "location": "10:87863113-87971930", "ensembl_id": "ENSG00000171862" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "PTEN", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "PMID: 22252256" ], "evidence": [ "Emory Genetics Laboratory" ], "phenotypes": [ "High Risk Breast Cancer", "Breast and Ovarian Cancer" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 143, "hash_id": "592843a08f6203468490fa68", "name": "Inherited ovarian cancer (without breast cancer)", "disease_group": "Tumour syndromes", "disease_sub_group": "Breast and endocrine", "status": "public", "version": "4.3", "version_created": "2023-10-26T01:26:24.397363Z", "relevant_disorders": [ "Familial ovarian cancer", "R207" ], "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" }, { "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." } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3680", "gene_name": "fibroblast growth factor 23", "omim_gene": [ "605380" ], "alias_name": null, "gene_symbol": "FGF23", "hgnc_symbol": "FGF23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:4477393-4488894", "ensembl_id": "ENSG00000118972" } }, "GRch38": { "90": { "location": "12:4368227-4379728", "ensembl_id": "ENSG00000118972" } } }, "hgnc_date_symbol_changed": "2000-05-16" }, "entity_type": "gene", "entity_name": "FGF23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11062477", "28383812", "26792657", "11062477" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services", "Emory Genetics Laboratory", "UKGTN", "Expert list" ], "phenotypes": [ "Hypophosphatemic rickets, autosomal dominant (193100)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 482, "hash_id": null, "name": "Hypophosphataemia or rickets", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.4", "version_created": "2023-10-26T01:09:18.808060Z", "relevant_disorders": [ "R154" ], "stats": { "number_of_genes": 18, "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." }, { "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": [ "BAF47", "Ini1", "Snr1", "hSNFS", "Sfh1p", "RDT", "PPP1R144" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11103", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1", "omim_gene": [ "601607" ], "alias_name": [ "sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144" ], "gene_symbol": "SMARCB1", "hgnc_symbol": "SMARCB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:24129150-24176703", "ensembl_id": "ENSG00000099956" } }, "GRch38": { "90": { "location": "22:23786963-23834516", "ensembl_id": "ENSG00000099956" } } }, "hgnc_date_symbol_changed": "1995-08-21" }, "entity_type": "gene", "entity_name": "SMARCB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review" ], "phenotypes": [ "{Rhabdoid tumor predisposition syndrome 1}, OMIM:609322", "Rhabdoid tumor predisposition syndrome 1, MONDO:0012252" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 600, "hash_id": null, "name": "Rhabdoid tumour predisposition", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.8", "version_created": "2023-10-26T10:41:19.686859Z", "relevant_disorders": [ "R358" ], "stats": { "number_of_genes": 2, "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 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": [ "bTrCP", "betaTrCP", "FBXW1A", "Fwd1", "beta-TrCP1", "bTrCP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1144", "gene_name": "beta-transducin repeat containing E3 ubiquitin protein ligase", "omim_gene": [ "603482" ], "alias_name": null, "gene_symbol": "BTRC", "hgnc_symbol": "BTRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:103113820-103317078", "ensembl_id": "ENSG00000166167" } }, "GRch38": { "90": { "location": "10:101354033-101557321", "ensembl_id": "ENSG00000166167" } } }, "hgnc_date_symbol_changed": "1999-01-28" }, "entity_type": "gene", "entity_name": "BTRC", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [ "12913067", "29263051", "28777841", "28422522", "27600068", "23596994", "16691619" ], "evidence": [ "Expert Review Amber", "London South East RGC GSTT", "Viapath" ], "phenotypes": [ "Split-hand split-foot malformation 3" ], "mode_of_inheritance": "", "tags": [ "cnv", "microduplication" ], "panel": { "id": 384, "hash_id": null, "name": "Limb disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.23", "version_created": "2024-04-26T11:20:59.632453Z", "relevant_disorders": [], "stats": { "number_of_genes": 260, "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." }, { "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": [ "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": "2017-11-03", "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": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Emory Genetics Laboratory", "Expert list", "Illumina TruGenome Clinical Sequencing Services", "Radboud University Medical Center, Nijmegen", "UKGTN", "Expert Review Green", "London South East RGC GSTT", "Viapath" ], "phenotypes": [ "Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 384, "hash_id": null, "name": "Limb disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.23", "version_created": "2024-04-26T11:20:59.632453Z", "relevant_disorders": [], "stats": { "number_of_genes": 260, "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." }, { "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": [ "B6P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9023", "gene_name": "plakophilin 1", "omim_gene": [ "601975" ], "alias_name": [ "ectodermal dysplasia/skin fragility syndrome" ], "gene_symbol": "PKP1", "hgnc_symbol": "PKP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:201252580-201302121", "ensembl_id": "ENSG00000081277" } }, "GRch38": { "90": { "location": "1:201283452-201332993", "ensembl_id": "ENSG00000081277" } } }, "hgnc_date_symbol_changed": "1996-10-18" }, "entity_type": "gene", "entity_name": "PKP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25565931", "22309335", "24073657" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Ectodermal dysplasia/skin fragility syndrome, 604536", "Ectodermal Dysplasia/Skin Fragility Syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 553, "hash_id": null, "name": "Ectodermal dysplasia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.29", "version_created": "2024-04-02T14:18:35.266681Z", "relevant_disorders": [ "R163" ], "stats": { "number_of_genes": 84, "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 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": [ "P2Y5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15520", "gene_name": "lysophosphatidic acid receptor 6", "omim_gene": [ "609239" ], "alias_name": null, "gene_symbol": "LPAR6", "hgnc_symbol": "LPAR6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:48963707-49018840", "ensembl_id": "ENSG00000139679" } }, "GRch38": { "90": { "location": "13:48389567-48444704", "ensembl_id": "ENSG00000139679" } } }, "hgnc_date_symbol_changed": "2009-06-23" }, "entity_type": "gene", "entity_name": "LPAR6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21426374", "21070332", "18461368" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Hypotrichosis 8", "Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150", "HYPT8", "localized autosomal recessive hypotrichosis-3 (LAH3)", "Autosomal recessive hypotrichosis", "Hereditary hypotrichosis simplex (HHS)", "Hypotrichosis simplex (HS)", "Hypotrichosis 8, 278150" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 553, "hash_id": null, "name": "Ectodermal dysplasia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.29", "version_created": "2024-04-02T14:18:35.266681Z", "relevant_disorders": [ "R163" ], "stats": { "number_of_genes": 84, "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 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:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert List" ], "phenotypes": [ "Mismatch repair cancer syndrome, OMIM:276300", "Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350", "Endometrial cancer, familial, OMIM:608089" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 504, "hash_id": null, "name": "Inherited polyposis and early onset colorectal cancer - germline testing", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "2.10", "version_created": "2023-12-11T15:27:02.596209Z", "relevant_disorders": [ "Inherited polyposis", "R211" ], "stats": { "number_of_genes": 19, "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 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6535", "gene_name": "lactate dehydrogenase A", "omim_gene": [ "150000" ], "alias_name": null, "gene_symbol": "LDHA", "hgnc_symbol": "LDHA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:18415935-18429972", "ensembl_id": "ENSG00000134333" } }, "GRch38": { "90": { "location": "11:18394388-18408425", "ensembl_id": "ENSG00000134333" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LDHA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Wessex and West Midlands GLH", "London North GLH", "Expert Review Green" ], "phenotypes": [ "Glycogen storage disease XI 612933" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 528, "hash_id": null, "name": "Glycogen storage disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "2.4", "version_created": "2024-03-12T17:08:50.849432Z", "relevant_disorders": [ "R274" ], "stats": { "number_of_genes": 29, "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 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": [ "UGAT", "UGT", "UGT1", "UGT2", "UGTL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11022", "gene_name": "solute carrier family 35 member A2", "omim_gene": [ "314375" ], "alias_name": null, "gene_symbol": "SLC35A2", "hgnc_symbol": "SLC35A2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "X:48760459-48769235", "ensembl_id": "ENSG00000102100" } }, "GRch38": { "90": { "location": "X:48903180-48911958", "ensembl_id": "ENSG00000102100" } } }, "hgnc_date_symbol_changed": "1995-02-24" }, "entity_type": "gene", "entity_name": "SLC35A2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "23561849", "24115232", "27743886", "25778940", "30817854" ], "evidence": [ "NHS GMS", "Expert Review Green", "UKGTN", "Radboud University Medical Center, Nijmegen", "Other" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIm OMIM:300896", "Developmental and epileptic encephalopathy-22 OMIM:300896", "SLC35A2-CDG MONDO:0010478" ], "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": [ "mosaicism" ], "panel": { "id": 25, "hash_id": "58346b8b8f62036225ca8a7d", "name": "Congenital disorders of glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "Specific metabolic abnormalities", "status": "public", "version": "4.18", "version_created": "2024-01-31T18:03:30.344768Z", "relevant_disorders": [ "Congential disorders of glycosylation" ], "stats": { "number_of_genes": 117, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16391", "gene_name": "caspase recruitment domain family member 9", "omim_gene": [ "607212" ], "alias_name": null, "gene_symbol": "CARD9", "hgnc_symbol": "CARD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139256355-139268133", "ensembl_id": "ENSG00000187796" } }, "GRch38": { "90": { "location": "9:136361903-136373681", "ensembl_id": "ENSG00000187796" } } }, "hgnc_date_symbol_changed": "2001-08-13" }, "entity_type": "gene", "entity_name": "CARD9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24131138" ], "evidence": [ "London North GLH", "NHS GMS", "Expert Review Green" ], "phenotypes": [ "Deep dermatophytosis, MONDO:0018335" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 565, "hash_id": null, "name": "Rare genetic inflammatory skin disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.19", "version_created": "2024-04-17T09:59:57.070157Z", "relevant_disorders": [ "R332" ], "stats": { "number_of_genes": 70, "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 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": [ "CX47", "CX46.6", "SPG44" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17494", "gene_name": "gap junction protein gamma 2", "omim_gene": [ "608803" ], "alias_name": [ "connexin 47" ], "gene_symbol": "GJC2", "hgnc_symbol": "GJC2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:228337553-228347527", "ensembl_id": "ENSG00000198835" } }, "GRch38": { "90": { "location": "1:228149852-228159826", "ensembl_id": "ENSG00000198835" } } }, "hgnc_date_symbol_changed": "2007-11-06" }, "entity_type": "gene", "entity_name": "GJC2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Autosomal Recessive Ataxia", "Leukodystrophy, hypomyelinating, 2" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 20, "hash_id": "559a7d1022c1fc58ad67fc97", "name": "Hereditary ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Motor Disorders of the CNS", "status": "public", "version": "1.332", "version_created": "2024-01-23T16:09:17.853479Z", "relevant_disorders": [], "stats": { "number_of_genes": 167, "number_of_strs": 14, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "SEMA1", "SemD", "coll-1", "Hsema-I" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10723", "gene_name": "semaphorin 3A", "omim_gene": [ "603961" ], "alias_name": [ "sema III" ], "gene_symbol": "SEMA3A", "hgnc_symbol": "SEMA3A", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "7:83585093-84122040", "ensembl_id": "ENSG00000075213" } }, "GRch38": { "90": { "location": "7:83955777-84492724", "ensembl_id": "ENSG00000075213" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "SEMA3A", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "24522099", "22927827" ], "evidence": [ "Expert Review Red", "Expert list", "Literature", "Other", "OMIM" ], "phenotypes": [ "Hypogonadotropic hypogonadism 16 with or without anosmia, 614897" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "monogenic-polygenic" ], "panel": { "id": 92, "hash_id": "573b204d8f62030defb98057", "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Hypothalamic and pituitary disorders", "status": "public", "version": "1.41", "version_created": "2024-01-24T12:19:10.319057Z", "relevant_disorders": [ "Kallmann syndrome", "Kallmann syndrom", "Idiopathic hypogonadotropic hypogonadism" ], "stats": { "number_of_genes": 47, "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": [ "RAIDD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2340", "gene_name": "CASP2 and RIPK1 domain containing adaptor with death domain", "omim_gene": [ "603454" ], "alias_name": [ "RIP-associated ICH1/CED3-homologous protein with death domain" ], "gene_symbol": "CRADD", "hgnc_symbol": "CRADD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:94071151-94288616", "ensembl_id": "ENSG00000169372" } }, "GRch38": { "90": { "location": "12:93677375-93894840", "ensembl_id": "ENSG00000169372" } } }, "hgnc_date_symbol_changed": "1999-05-07" }, "entity_type": "gene", "entity_name": "CRADD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22279524", "27773430", "30914828" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 96, "hash_id": "568f8ba422c1fc1c79ca1774", "name": "Malformations of cortical development", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "4.26", "version_created": "2024-04-03T10:27:31.688427Z", "relevant_disorders": [], "stats": { "number_of_genes": 126, "number_of_strs": 0, "number_of_regions": 1 }, "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" }, { "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": [ "TIMM14", "Tim14", "Pam18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30528", "gene_name": "DnaJ heat shock protein family (Hsp40) member C19", "omim_gene": [ "608977" ], "alias_name": null, "gene_symbol": "DNAJC19", "hgnc_symbol": "DNAJC19", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "3:180701497-180707562", "ensembl_id": "ENSG00000205981" } }, "GRch38": { "90": { "location": "3:180983709-180989774", "ensembl_id": "ENSG00000205981" } } }, "hgnc_date_symbol_changed": "2005-07-28" }, "entity_type": "gene", "entity_name": "DNAJC19", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "16055927", "22797137", "27604308", "27928778", "27426421" ], "evidence": [ "South West GLH", "Expert Review Red", "Expert list" ], "phenotypes": [ "dilated cardiomyopathy with ataxia syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": "55a4d99022c1fc6710839b84", "name": "Dilated Cardiomyopathy and conduction defects", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Cardiomyopathy", "status": "public", "version": "1.85", "version_created": "2024-01-22T16:17:20.932848Z", "relevant_disorders": [ "Dilated Cardiomyopathy", "Dilated Cardiomyopathy (DCM)", "Dilated cardiomyopathy - teen and adult" ], "stats": { "number_of_genes": 85, "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": [ "HP10481" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13530", "gene_name": "transmembrane protein 5", "omim_gene": [ "605862" ], "alias_name": null, "gene_symbol": "TMEM5", "hgnc_symbol": "TMEM5", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "12:64173583-64203338", "ensembl_id": "ENSG00000118600" } }, "GRch38": { "90": { "location": "12:63779803-63809558", "ensembl_id": "ENSG00000118600" } } }, "hgnc_date_symbol_changed": "2000-09-20" }, "entity_type": "gene", "entity_name": "TMEM5", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "16282978" ], "evidence": [ "NHS GMS", "London South GLH", "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Emory Genetics Laboratory" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new-gene-name" ], "panel": { "id": 207, "hash_id": "55b117c022c1fc7dd7ce411c", "name": "Congenital muscular dystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "4.23", "version_created": "2024-02-20T14:20:15.924380Z", "relevant_disorders": [ "R79" ], "stats": { "number_of_genes": 60, "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)" }, { "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": [ "MYH2A", "MYHSA2", "MyHC-IIa", "MYHas8", "MyHC-2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7572", "gene_name": "myosin heavy chain 2", "omim_gene": [ "160740" ], "alias_name": null, "gene_symbol": "MYH2", "hgnc_symbol": "MYH2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "17:10424465-10453274", "ensembl_id": "ENSG00000125414" } }, "GRch38": { "90": { "location": "17:10521148-10549957", "ensembl_id": "ENSG00000125414" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MYH2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "11114175", "23489661", "15548556", "23388406", "20418530", "24193343" ], "evidence": [ "Expert list", "NHS GMS", "London South GLH", "Expert Review Green", "Expert", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services", "UKGTN" ], "phenotypes": [ "Proximal myopathy and ophthalmoplegia, OMIM:605637" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 225, "hash_id": "553f94b6bb5a1616e5ed459a", "name": "Congenital myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "4.37", "version_created": "2024-04-03T11:24:42.434877Z", "relevant_disorders": [ "R81" ], "stats": { "number_of_genes": 124, "number_of_strs": 2, "number_of_regions": 3 }, "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" }, { "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": [ "NUF2R", "CT106" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14621", "gene_name": "NUF2, NDC80 kinetochore complex component", "omim_gene": [ "611772" ], "alias_name": [ "cancer/testis antigen 106" ], "gene_symbol": "NUF2", "hgnc_symbol": "NUF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:163236366-163325554", "ensembl_id": "ENSG00000143228" } }, "GRch38": { "90": { "location": "1:163266576-163355764", "ensembl_id": "ENSG00000143228" } } }, "hgnc_date_symbol_changed": "2006-11-07" }, "entity_type": "gene", "entity_name": "NUF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33721060" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "microcephaly", "short stature", "bilateral vocal cord paralysis", "micrognathia", "atrial septal defect" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 162, "hash_id": "568f860222c1fc1c79ca1769", "name": "Severe microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "DNA repair disorders", "status": "public", "version": "4.88", "version_created": "2024-04-26T11:20:01.015813Z", "relevant_disorders": [ "Primary Microcephaly - Microcephalic Dwarfism Spectrum", "Severe microcephaly", "R88" ], "stats": { "number_of_genes": 264, "number_of_strs": 0, "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": "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": [ "NSRD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7606", "gene_name": "myosin VIIA", "omim_gene": [ "276903" ], "alias_name": null, "gene_symbol": "MYO7A", "hgnc_symbol": "MYO7A", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "11:76839310-76926284", "ensembl_id": "ENSG00000137474" } }, "GRch38": { "90": { "location": "11:77128264-77215239", "ensembl_id": "ENSG00000137474" } } }, "hgnc_date_symbol_changed": "1992-06-08" }, "entity_type": "gene", "entity_name": "MYO7A", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Emory Genetics Laboratory" ], "phenotypes": [ "ciliopathies" ], "mode_of_inheritance": "", "tags": [], "panel": { "id": 178, "hash_id": "55a76be222c1fc6710839b9f", "name": "Primary ciliary disorders", "disease_group": "Ciliopathies", "disease_sub_group": "Respiratory ciliopathies", "status": "public", "version": "1.42", "version_created": "2024-04-09T15:06:27.645728Z", "relevant_disorders": [ "Primary ciliary dyskinesia" ], "stats": { "number_of_genes": 144, "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": [ "XAG-2", "HAG-2", "AG2", "PDIA17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:328", "gene_name": "anterior gradient 2, protein disulphide isomerase family member", "omim_gene": [ "606358" ], "alias_name": [ "protein disulfide isomerase family A, member 17" ], "gene_symbol": "AGR2", "hgnc_symbol": "AGR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:16831435-16873057", "ensembl_id": "ENSG00000106541" } }, "GRch38": { "90": { "location": "7:16791811-16833433", "ensembl_id": "ENSG00000106541" } } }, "hgnc_date_symbol_changed": "2000-03-06" }, "entity_type": "gene", "entity_name": "AGR2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "34952832" ], "evidence": [ "NHS GMS", "Expert Review Green", "Literature" ], "phenotypes": [ "Cystic fibrosis-like syndrome", "chronic diarrhoea" ], "mode_of_inheritance": "BIALLELIC, 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": "3.10", "version_created": "2024-04-09T15:06:18.965679Z", "relevant_disorders": [ "R189" ], "stats": { "number_of_genes": 77, "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 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": [ "DTDST" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10994", "gene_name": "solute carrier family 26 member 2", "omim_gene": [ "606718" ], "alias_name": null, "gene_symbol": "SLC26A2", "hgnc_symbol": "SLC26A2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "5:149340300-149373018", "ensembl_id": "ENSG00000155850" } }, "GRch38": { "90": { "location": "5:149960737-149993455", "ensembl_id": "ENSG00000155850" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "SLC26A2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "", "Illumina TruGenome Clinical Sequencing Services", "Expert Review Green", "Emory Genetics Laboratory" ], "phenotypes": [ "ACG1B,DD,rMED", "multiple epiphyseal dysplasia", "Multiple Epiphyseal Dysplasia, Recessive", "Epiphyseal dysplasia, multiple, 4" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 309, "hash_id": "5693952f22c1fc251660fb1e", "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "4.65", "version_created": "2024-04-26T11:00:52.642595Z", "relevant_disorders": [ "Unexplained skeletal dysplasia", "Skeletal dysplasia", "R104" ], "stats": { "number_of_genes": 618, "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" }, { "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": [ "FLJ11752", "NTKL-BP1", "GO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25676", "gene_name": "golgin, RAB6 interacting", "omim_gene": [ "607983" ], "alias_name": [ "gerodermia osteodysplastica", "RAB6-interacting golgin" ], "gene_symbol": "GORAB", "hgnc_symbol": "GORAB", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:170501270-170522587", "ensembl_id": "ENSG00000120370" } }, "GRch38": { "90": { "location": "1:170532129-170553446", "ensembl_id": "ENSG00000120370" } } }, "hgnc_date_symbol_changed": "2009-02-13" }, "entity_type": "gene", "entity_name": "GORAB", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green", "", "Emory Genetics Laboratory" ], "phenotypes": [ "Geroderma osteodysplasticum 231070" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 309, "hash_id": "5693952f22c1fc251660fb1e", "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "4.65", "version_created": "2024-04-26T11:00:52.642595Z", "relevant_disorders": [ "Unexplained skeletal dysplasia", "Skeletal dysplasia", "R104" ], "stats": { "number_of_genes": 618, "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" }, { "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9577", "gene_name": "phosphoserine phosphatase", "omim_gene": [ "172480" ], "alias_name": null, "gene_symbol": "PSPH", "hgnc_symbol": "PSPH", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "7:56078744-56119297", "ensembl_id": "ENSG00000146733" } }, "GRch38": { "90": { "location": "7:56011051-56051604", "ensembl_id": "ENSG00000146733" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PSPH", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green", "Expert list", "Illumina TruGenome Clinical Sequencing Services", "Radboud University Medical Center, Nijmegen", "" ], "phenotypes": [ "Phosphoserine phosphatase deficiency 614023" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 309, "hash_id": "5693952f22c1fc251660fb1e", "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "4.65", "version_created": "2024-04-26T11:00:52.642595Z", "relevant_disorders": [ "Unexplained skeletal dysplasia", "Skeletal dysplasia", "R104" ], "stats": { "number_of_genes": 618, "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" }, { "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": [ "KIAA0376" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29022", "gene_name": "sperm antigen with calponin homology and coiled-coil domains 1 like", "omim_gene": [ "614140" ], "alias_name": [ "cytokinesis and spindle organization A" ], "gene_symbol": "SPECC1L", "hgnc_symbol": "SPECC1L", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "22:24666786-24813708", "ensembl_id": "ENSG00000100014" } }, "GRch38": { "90": { "location": "22:24270817-24417740", "ensembl_id": "ENSG00000100014" } } }, "hgnc_date_symbol_changed": "2010-09-17" }, "entity_type": "gene", "entity_name": "SPECC1L", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "26111080" ], "evidence": [ "Expert Review Red", "Radboud University Medical Center, Nijmegen", "Expert list", "" ], "phenotypes": [ "Facial clefting, oblique, 1 600251", "Opitz GBBB syndrome, type II 145410", "Teebi hyperterorism like syndrome 145420" ], "mode_of_inheritance": "Other - please specifiy in evaluation comments", "tags": [], "panel": { "id": 309, "hash_id": "5693952f22c1fc251660fb1e", "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "4.65", "version_created": "2024-04-26T11:00:52.642595Z", "relevant_disorders": [ "Unexplained skeletal dysplasia", "Skeletal dysplasia", "R104" ], "stats": { "number_of_genes": 618, "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" }, { "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": [ "KIAA1605", "AD035", "DKFZp762K054" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18986", "gene_name": "glucosylceramidase beta 2", "omim_gene": [ "609471" ], "alias_name": [ "bile acid beta-glucosidase", "non-lysosomal glucosylceramidase" ], "gene_symbol": "GBA2", "hgnc_symbol": "GBA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:35736863-35749983", "ensembl_id": "ENSG00000070610" } }, "GRch38": { "90": { "location": "9:35736866-35749228", "ensembl_id": "ENSG00000070610" } } }, "hgnc_date_symbol_changed": "2002-07-25" }, "entity_type": "gene", "entity_name": "GBA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23332916", "24337409", "24252062" ], "evidence": [ "Yorkshire and North East GLH", "Expert Review Green", "NHS GMS", "London North GLH" ], "phenotypes": [ "Spastic paraplegia 46, autosomal recessive, 614409" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 567, "hash_id": null, "name": "Adult onset hereditary spastic paraplegia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.21", "version_created": "2023-10-26T10:57:55.326415Z", "relevant_disorders": [ "Hereditary spastic paraplegia - adult onset", "R60" ], "stats": { "number_of_genes": 107, "number_of_strs": 10, "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 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": [ "hFrtz", "fritz", "BBS15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28027", "gene_name": "WD repeat containing planar cell polarity effector", "omim_gene": [ "613580" ], "alias_name": null, "gene_symbol": "WDPCP", "hgnc_symbol": "WDPCP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:63348518-64054977", "ensembl_id": "ENSG00000143951" } }, "GRch38": { "90": { "location": "2:63121383-63827843", "ensembl_id": "ENSG00000143951" } } }, "hgnc_date_symbol_changed": "2011-02-01" }, "entity_type": "gene", "entity_name": "WDPCP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Ciliopathy genes associated with cystic kidney disease", "?Bardet-Biedl syndrome 15 615992" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 678, "hash_id": null, "name": "Unexplained young onset end-stage renal disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.42", "version_created": "2024-04-26T11:21:24.195205Z", "relevant_disorders": [ "Unexplained paediatric onset end-stage renal disease", "R257" ], "stats": { "number_of_genes": 302, "number_of_strs": 0, "number_of_regions": 3 }, "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": [ "SPL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10817", "gene_name": "sphingosine-1-phosphate lyase 1", "omim_gene": [ "603729" ], "alias_name": null, "gene_symbol": "SGPL1", "hgnc_symbol": "SGPL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:72575717-72640930", "ensembl_id": "ENSG00000166224" } }, "GRch38": { "90": { "location": "10:70815961-70881173", "ensembl_id": "ENSG00000166224" } } }, "hgnc_date_symbol_changed": "1999-02-03" }, "entity_type": "gene", "entity_name": "SGPL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28165343", "28165339", "28181337" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Nephrotic syndrome 14 617575" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 678, "hash_id": null, "name": "Unexplained young onset end-stage renal disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.42", "version_created": "2024-04-26T11:21:24.195205Z", "relevant_disorders": [ "Unexplained paediatric onset end-stage renal disease", "R257" ], "stats": { "number_of_genes": 302, "number_of_strs": 0, "number_of_regions": 3 }, "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": [ "FAD", "S182", "PS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9508", "gene_name": "presenilin 1", "omim_gene": [ "104311" ], "alias_name": null, "gene_symbol": "PSEN1", "hgnc_symbol": "PSEN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:73603126-73690399", "ensembl_id": "ENSG00000080815" } }, "GRch38": { "90": { "location": "14:73136418-73223691", "ensembl_id": "ENSG00000080815" } } }, "hgnc_date_symbol_changed": "1992-11-05" }, "entity_type": "gene", "entity_name": "PSEN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16033913", "23028126", "7596406", "22503161" ], "evidence": [ "Wessex and West Midlands GLH", "Yorkshire and North East GLH", "NHS GMS", "London North GLH", "Expert Review Green" ], "phenotypes": [ "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822", "Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822", "Dystonia", "Dementia, frontotemporal, OMIM:600274", "Pick disease, OMIM:172700", "Alzheimer disease, type 3, OMIM:607822" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 474, "hash_id": null, "name": "Adult onset neurodegenerative disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.47", "version_created": "2024-04-15T09:57:08.902052Z", "relevant_disorders": [ "Neurodegenerative disorders - adult onset", "R58" ], "stats": { "number_of_genes": 414, "number_of_strs": 16, "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": "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": [ "TRIAD3", "UBCE7IP1", "ZIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21698", "gene_name": "ring finger protein 216", "omim_gene": [ "609948" ], "alias_name": null, "gene_symbol": "RNF216", "hgnc_symbol": "RNF216", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:5659678-5821370", "ensembl_id": "ENSG00000011275" } }, "GRch38": { "90": { "location": "7:5620047-5781739", "ensembl_id": "ENSG00000011275" } } }, "hgnc_date_symbol_changed": "2007-08-20" }, "entity_type": "gene", "entity_name": "RNF216", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11932290", "23656588" ], "evidence": [ "Wessex and West Midlands GLH", "Yorkshire and North East GLH", "NHS GMS", "London North GLH", "Expert Review Green" ], "phenotypes": [ "Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 474, "hash_id": null, "name": "Adult onset neurodegenerative disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.47", "version_created": "2024-04-15T09:57:08.902052Z", "relevant_disorders": [ "Neurodegenerative disorders - adult onset", "R58" ], "stats": { "number_of_genes": 414, "number_of_strs": 16, "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": "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": [ "NSP2", "NSPL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10468", "gene_name": "reticulon 2", "omim_gene": [ "603183" ], "alias_name": [ "NSP-like protein 1", "Neuroendocrine-specific protein-like 1" ], "gene_symbol": "RTN2", "hgnc_symbol": "RTN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45988547-46000319", "ensembl_id": "ENSG00000125744" } }, "GRch38": { "90": { "location": "19:45485289-45497061", "ensembl_id": "ENSG00000125744" } } }, "hgnc_date_symbol_changed": "1997-07-01" }, "entity_type": "gene", "entity_name": "RTN2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "Montenegro et al. (2012)" ], "evidence": [ "Expert Review Red", "Wessex and West Midlands GLH", "Yorkshire and North East GLH", "NHS GMS", "London North GLH" ], "phenotypes": [ "Spastic paraplegia 12, autosomal dominant" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 474, "hash_id": null, "name": "Adult onset neurodegenerative disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.47", "version_created": "2024-04-15T09:57:08.902052Z", "relevant_disorders": [ "Neurodegenerative disorders - adult onset", "R58" ], "stats": { "number_of_genes": 414, "number_of_strs": 16, "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": "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": [ "OPCA3", "ADCAII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10560", "gene_name": "ataxin 7", "omim_gene": [ "607640" ], "alias_name": null, "gene_symbol": "ATXN7", "hgnc_symbol": "ATXN7", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "3:63850233-63989138", "ensembl_id": "ENSG00000163635" } }, "GRch38": { "90": { "location": "3:63864557-64003462", "ensembl_id": "ENSG00000163635" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "ATXN7", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "27604308" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia 7, OMIM:164500" ], "mode_of_inheritance": "Other", "tags": [ "nucleotide-repeat-expansion", "currently-ngs-unreportable" ], "panel": { "id": 302, "hash_id": "5763f1518f620350a22bccdb", "name": "Undiagnosed metabolic disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "Specific metabolic abnormalities", "status": "public", "version": "1.617", "version_created": "2024-04-16T14:22:42.770171Z", "relevant_disorders": [ "Undiagnosed Metabolic Panel" ], "stats": { "number_of_genes": 752, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1270", "bA444E17.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21022", "gene_name": "alanyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "612035" ], "alias_name": [ "alanine tRNA ligase 2, mitochondrial" ], "gene_symbol": "AARS2", "hgnc_symbol": "AARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:44267391-44281063", "ensembl_id": "ENSG00000124608" } }, "GRch38": { "90": { "location": "6:44299654-44313326", "ensembl_id": "ENSG00000124608" } } }, "hgnc_date_symbol_changed": "2007-02-23" }, "entity_type": "gene", "entity_name": "AARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308" ], "evidence": [ "London North GLH", "NHS GMS", "Expert Review Green" ], "phenotypes": [ "Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)", "Multiple respiratory chain complex deficiencies (disorders of protein synthesis)", "Combined oxidative phosphorylation deficiency 8, 614096", "infantile mitochondrial cardiomyopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 467, "hash_id": null, "name": "Likely inborn error of metabolism - targeted testing not possible", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.137", "version_created": "2024-04-16T14:24:15.739554Z", "relevant_disorders": [ "Likely inborn error of metabolism - targeted testing not possible", "Likely inborn error of metabolism", "Inborn errors of metabolism", "R98" ], "stats": { "number_of_genes": 934, "number_of_strs": 3, "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": "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": [ "COX8-2", "COX8L", "VIII-L", "COX", "VIII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2294", "gene_name": "cytochrome c oxidase subunit 8A", "omim_gene": [ "123870" ], "alias_name": null, "gene_symbol": "COX8A", "hgnc_symbol": "COX8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:63742079-63744015", "ensembl_id": "ENSG00000176340" } }, "GRch38": { "90": { "location": "11:63974607-63976543", "ensembl_id": "ENSG00000176340" } } }, "hgnc_date_symbol_changed": "2004-03-24" }, "entity_type": "gene", "entity_name": "COX8A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 26685157" ], "evidence": [ "Expert Review Red" ], "phenotypes": [ "?Mitochondrial complex IV deficiency 220110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 467, "hash_id": null, "name": "Likely inborn error of metabolism - targeted testing not possible", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.137", "version_created": "2024-04-16T14:24:15.739554Z", "relevant_disorders": [ "Likely inborn error of metabolism - targeted testing not possible", "Likely inborn error of metabolism", "Inborn errors of metabolism", "R98" ], "stats": { "number_of_genes": 934, "number_of_strs": 3, "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": "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": [ "DNC", "MUP1", "TPC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14409", "gene_name": "solute carrier family 25 member 19", "omim_gene": [ "606521" ], "alias_name": null, "gene_symbol": "SLC25A19", "hgnc_symbol": "SLC25A19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73269073-73285591", "ensembl_id": "ENSG00000125454" } }, "GRch38": { "90": { "location": "17:75272981-75289510", "ensembl_id": "ENSG00000125454" } } }, "hgnc_date_symbol_changed": "2001-09-27" }, "entity_type": "gene", "entity_name": "SLC25A19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [ "MICROCEPHALY, AMISH TYPE, 607196", "THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 539, "hash_id": null, "name": "Possible mitochondrial disorder - nuclear genes", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.105", "version_created": "2024-04-12T22:10:12.163485Z", "relevant_disorders": [ "R63" ], "stats": { "number_of_genes": 381, "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 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": [ "GalNAc-T2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4124", "gene_name": "polypeptide N-acetylgalactosaminyltransferase 2", "omim_gene": [ "602274" ], "alias_name": [ "polypeptide GalNAc transferase 2" ], "gene_symbol": "GALNT2", "hgnc_symbol": "GALNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:230193536-230417870", "ensembl_id": "ENSG00000143641" } }, "GRch38": { "90": { "location": "1:230057990-230282124", "ensembl_id": "ENSG00000143641" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "GALNT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27508872", "32293671" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIt OMIM:618885" ], "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": "3.169", "version_created": "2024-04-26T11:21:37.061727Z", "relevant_disorders": [ "R21", "Fetal anomalies with a likely genetic cause", "Fetal anomalies with a likely genetic cause - non urgent", "R412" ], "stats": { "number_of_genes": 1988, "number_of_strs": 2, "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "ttv" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3512", "gene_name": "exostosin glycosyltransferase 1", "omim_gene": [ "608177" ], "alias_name": [ "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" ], "gene_symbol": "EXT1", "hgnc_symbol": "EXT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:118806729-119124092", "ensembl_id": "ENSG00000182197" } }, "GRch38": { "90": { "location": "8:117794490-118111853", "ensembl_id": "ENSG00000182197" } } }, "hgnc_date_symbol_changed": "1993-05-04" }, "entity_type": "gene", "entity_name": "EXT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "PAGE DD-Gene2Phenotype", "Expert Review Green" ], "phenotypes": [ "HEREDITARY MULTIPLE EXOSTOSES TYPE 1", "TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 478, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.169", "version_created": "2024-04-26T11:21:37.061727Z", "relevant_disorders": [ "R21", "Fetal anomalies with a likely genetic cause", "Fetal anomalies with a likely genetic cause - non urgent", "R412" ], "stats": { "number_of_genes": 1988, "number_of_strs": 2, "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "RP57" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8789", "gene_name": "phosphodiesterase 6G", "omim_gene": [ "180073" ], "alias_name": null, "gene_symbol": "PDE6G", "hgnc_symbol": "PDE6G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79617489-79630142", "ensembl_id": "ENSG00000185527" } }, "GRch38": { "90": { "location": "17:81650459-81663112", "ensembl_id": "ENSG00000185527" } } }, "hgnc_date_symbol_changed": "1990-04-10" }, "entity_type": "gene", "entity_name": "PDE6G", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "PAGE DD-Gene2Phenotype" ], "phenotypes": [ "RETINITIS PIGMENTOSA 57" ], "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": "3.169", "version_created": "2024-04-26T11:21:37.061727Z", "relevant_disorders": [ "R21", "Fetal anomalies with a likely genetic cause", "Fetal anomalies with a likely genetic cause - non urgent", "R412" ], "stats": { "number_of_genes": 1988, "number_of_strs": 2, "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "LAL", "CESD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6617", "gene_name": "lipase A, lysosomal acid type", "omim_gene": [ "613497" ], "alias_name": [ "Wolman disease", "lysosomal acid lipase", "sterol esterase" ], "gene_symbol": "LIPA", "hgnc_symbol": "LIPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:90973326-91174314", "ensembl_id": "ENSG00000107798" } }, "GRch38": { "90": { "location": "10:89213569-89414557", "ensembl_id": "ENSG00000107798" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "LIPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12666227" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Fetal hydrops", "Wolman disease, 278000", "Lysosomal Acid Lipase Deficiency" ], "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": "3.169", "version_created": "2024-04-26T11:21:37.061727Z", "relevant_disorders": [ "R21", "Fetal anomalies with a likely genetic cause", "Fetal anomalies with a likely genetic cause - non urgent", "R412" ], "stats": { "number_of_genes": 1988, "number_of_strs": 2, "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "SPANK-2", "prosap2", "KIAA1650", "PSAP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14294", "gene_name": "SH3 and multiple ankyrin repeat domains 3", "omim_gene": [ "606230" ], "alias_name": [ "proline rich synapse associated protein 2", "shank postsynaptic density protein" ], "gene_symbol": "SHANK3", "hgnc_symbol": "SHANK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:51112843-51171726", "ensembl_id": "ENSG00000251322" } }, "GRch38": { "90": { "location": "22:50674415-50733298", "ensembl_id": "ENSG00000251322" } } }, "hgnc_date_symbol_changed": "2002-02-22" }, "entity_type": "gene", "entity_name": "SHANK3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "PAGE DD-Gene2Phenotype" ], "phenotypes": [ "Phelan-McDermid syndrome, OMIM:606232", "Phelan-McDermid syndrome, MONDO:0011652" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 478, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.169", "version_created": "2024-04-26T11:21:37.061727Z", "relevant_disorders": [ "R21", "Fetal anomalies with a likely genetic cause", "Fetal anomalies with a likely genetic cause - non urgent", "R412" ], "stats": { "number_of_genes": 1988, "number_of_strs": 2, "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32173", "MGC16028" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29669", "gene_name": "intraflagellar transport 43", "omim_gene": [ "614068" ], "alias_name": null, "gene_symbol": "IFT43", "hgnc_symbol": "IFT43", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:76368479-76550928", "ensembl_id": "ENSG00000119650" } }, "GRch38": { "90": { "location": "14:75902136-76084585", "ensembl_id": "ENSG00000119650" } } }, "hgnc_date_symbol_changed": "2011-06-09" }, "entity_type": "gene", "entity_name": "IFT43", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21378380" ], "evidence": [ "NHS GMS" ], "phenotypes": [ "Short-rib thoracic dysplasia 18 with polydactyly 617866", "Cranioectodermal dysplasia type 3 614099" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 168, "hash_id": "55b605f722c1fc05fd2345af", "name": "Rare syndromic craniosynostosis or isolated multisuture synostosis", "disease_group": "Skeletal disorders", "disease_sub_group": "Craniosynostosis syndromes", "status": "public", "version": "4.180", "version_created": "2024-04-23T11:40:09.630526Z", "relevant_disorders": [ "Craniosynostosis syndromes", "Craniosynostosis syndromes phenotypes", "Rare syndromic craniosynostosis or isolated multisuture synostosis", "Craniosynostosis", "R100" ], "stats": { "number_of_genes": 197, "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." }, { "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9498", "gene_name": "prosaposin", "omim_gene": [ "176801" ], "alias_name": [ "variant Gaucher disease and variant metachromatic leukodystrophy" ], "gene_symbol": "PSAP", "hgnc_symbol": "PSAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73576055-73611126", "ensembl_id": "ENSG00000197746" } }, "GRch38": { "90": { "location": "10:71816298-71851375", "ensembl_id": "ENSG00000197746" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PSAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15773042" ], "evidence": [ "DD-Gene2Phenotype", "Expert Review Green" ], "phenotypes": [ "ATYPICAL KRABBE DISEASE 611722" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 484, "hash_id": null, "name": "DDG2P", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.90", "version_created": "2024-04-26T11:21:42.798189Z", "relevant_disorders": [], "stats": { "number_of_genes": 2349, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:869", "gene_name": "ATPase copper transporting alpha", "omim_gene": [ "300011" ], "alias_name": [ "copper pump 1", "copper-transporting ATPase 1" ], "gene_symbol": "ATP7A", "hgnc_symbol": "ATP7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:77166194-77305892", "ensembl_id": "ENSG00000165240" } }, "GRch38": { "90": { "location": "X:77910656-78050395", "ensembl_id": "ENSG00000165240" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ATP7A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8149649", "11431706", "15372525", "19194885", "9246006", "17108763", "20170900", "10739752", "14635105", "9894833", "12221109", "19153371", "7842019", "8812725" ], "evidence": [ "DD-Gene2Phenotype", "Expert Review Green" ], "phenotypes": [ "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489", "OCCIPITAL HORN SYNDROME 304150", "MENKES DISEASE 309400" ], "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": "3.90", "version_created": "2024-04-26T11:21:42.798189Z", "relevant_disorders": [], "stats": { "number_of_genes": 2349, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13998", "gene_name": "PR/SET domain 13", "omim_gene": [ "616741" ], "alias_name": null, "gene_symbol": "PRDM13", "hgnc_symbol": "PRDM13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:100054606-100063454", "ensembl_id": "ENSG00000112238" } }, "GRch38": { "90": { "location": "6:99606730-99615578", "ensembl_id": "ENSG00000112238" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "PRDM13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35390279" ], "evidence": [ "DD-Gene2Phenotype", "Expert Review Green" ], "phenotypes": [ "PRDM13-related olivopentocerebellar hypoplasia syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 484, "hash_id": null, "name": "DDG2P", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.90", "version_created": "2024-04-26T11:21:42.798189Z", "relevant_disorders": [], "stats": { "number_of_genes": 2349, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "PPP1R170" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12852", "gene_name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma", "omim_gene": [ "605356" ], "alias_name": [ "14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170" ], "gene_symbol": "YWHAG", "hgnc_symbol": "YWHAG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:75956116-75988348", "ensembl_id": "ENSG00000170027" } }, "GRch38": { "90": { "location": "7:76326794-76359031", "ensembl_id": "ENSG00000170027" } } }, "hgnc_date_symbol_changed": "1993-09-20" }, "entity_type": "gene", "entity_name": "YWHAG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "28777935" ], "evidence": [ "Expert Review Green", "DD-Gene2Phenotype" ], "phenotypes": [ "Early-Onset Epilepsy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 484, "hash_id": null, "name": "DDG2P", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.90", "version_created": "2024-04-26T11:21:42.798189Z", "relevant_disorders": [], "stats": { "number_of_genes": 2349, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10377" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21863", "gene_name": "RNA binding motif protein 28", "omim_gene": [ "612074" ], "alias_name": null, "gene_symbol": "RBM28", "hgnc_symbol": "RBM28", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:127937738-127983962", "ensembl_id": "ENSG00000106344" } }, "GRch38": { "90": { "location": "7:128297685-128343908", "ensembl_id": "ENSG00000106344" } } }, "hgnc_date_symbol_changed": "2004-06-03" }, "entity_type": "gene", "entity_name": "RBM28", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "18439547" ], "evidence": [ "DD-Gene2Phenotype", "Expert Review Red" ], "phenotypes": [ "ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 484, "hash_id": null, "name": "DDG2P", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.90", "version_created": "2024-04-26T11:21:42.798189Z", "relevant_disorders": [], "stats": { "number_of_genes": 2349, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "IDD", "MED", "EDM3", "FLJ90759", "DJ885L7.4.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2219", "gene_name": "collagen type IX alpha 3 chain", "omim_gene": [ "120270" ], "alias_name": [ "collagen type IX proteoglycan" ], "gene_symbol": "COL9A3", "hgnc_symbol": "COL9A3", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "20:61447596-61472511", "ensembl_id": "ENSG00000092758" } }, "GRch38": { "90": { "location": "20:62816244-62841159", "ensembl_id": "ENSG00000092758" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "COL9A3", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "31090205", "24273071" ], "evidence": [ "Expert Review Amber", "Expert" ], "phenotypes": [ "Stickler syndrome, MONDO:0019354" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "to_be_confirmed_NHSE" ], "panel": { "id": 126, "hash_id": "558ac48fbb5a16630dcfeaad", "name": "Monogenic hearing loss", "disease_group": "Hearing and ear disorders", "disease_sub_group": "Non-syndromic hearing loss", "status": "public", "version": "4.39", "version_created": "2024-04-26T11:14:53.657731Z", "relevant_disorders": [ "Hearing loss", "Congenital hearing impairment", "Autosomal dominant deafness", "Congenital hearing impairment (profound/severe)", "Non-syndromic hearing loss", "R67" ], "stats": { "number_of_genes": 422, "number_of_strs": 0, "number_of_regions": 1 }, "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": "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", "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" } ] }, "transcript": null }, { "gene_data": { "alias": [ "MCMT", "CXXC9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2976", "gene_name": "DNA methyltransferase 1", "omim_gene": [ "126375" ], "alias_name": null, "gene_symbol": "DNMT1", "hgnc_symbol": "DNMT1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "19:10244021-10341962", "ensembl_id": "ENSG00000130816" } }, "GRch38": { "90": { "location": "19:10133345-10231286", "ensembl_id": "ENSG00000130816" } } }, "hgnc_date_symbol_changed": "1991-06-04" }, "entity_type": "gene", "entity_name": "DNMT1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "10325416", "10433969", "10449766", "10545955", "10615135", "10721735", "10753866", "10801130", "10888872", "10888886", "11005794", "11074872", "11290321", "11728338", "11884600", "11932749", "11940649", "12145218", "12473678", "12496760", "12702876", "12915469", "14615517", "14684836", "14749379", "14978102", "15215866", "15311210", "1559980", "15657147", "15684088", "15870198", "1594447", "1606615", "16357870", "16998846", "17312023", "17322882", "17359920", "17470536", "17673620", "17960246", "17994007", "18194272", "19098913", "19246518", "19433415", "1968655", "20081831", "2014266", "21163962", "21532572", "22323818", "22328086", "23365052", "24013172", "24107992", "3210246", "7898717", "8747854", "8917520", "8940105", "9302295", "9333948", "9449671", "31984424" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services", "Emory Genetics Laboratory" ], "phenotypes": [ "hearing loss", "Dementia, Deafness, and Sensory Neuropathy", "Neuropathy, hereditary sensory, type IE, 614116", "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 126, "hash_id": "558ac48fbb5a16630dcfeaad", "name": "Monogenic hearing loss", "disease_group": "Hearing and ear disorders", "disease_sub_group": "Non-syndromic hearing loss", "status": "public", "version": "4.39", "version_created": "2024-04-26T11:14:53.657731Z", "relevant_disorders": [ "Hearing loss", "Congenital hearing impairment", "Autosomal dominant deafness", "Congenital hearing impairment (profound/severe)", "Non-syndromic hearing loss", "R67" ], "stats": { "number_of_genes": 422, "number_of_strs": 0, "number_of_regions": 1 }, "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": "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", "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" } ] }, "transcript": null }, { "gene_data": { "alias": [ "PARG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30207", "gene_name": "Rho GTPase activating protein 29", "omim_gene": [ "610496" ], "alias_name": null, "gene_symbol": "ARHGAP29", "hgnc_symbol": "ARHGAP29", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:94614544-94740624", "ensembl_id": "ENSG00000137962" } }, "GRch38": { "90": { "location": "1:94148988-94275068", "ensembl_id": "ENSG00000137962" } } }, "hgnc_date_symbol_changed": "2005-04-28" }, "entity_type": "gene", "entity_name": "ARHGAP29", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": "", "publications": [ "23008150", "25704602", "27350171", "27369588", "27033726", "25512736", "27350171", "28029220", "27033726" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Research" ], "phenotypes": [ "cleft lip with or without cleft palate", "Cleft palate" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "gene-checked" ], "panel": { "id": 81, "hash_id": "57acb8268f620364dc61afd3", "name": "Clefting", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "status": "public", "version": "4.111", "version_created": "2024-04-26T11:18:51.913490Z", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "stats": { "number_of_genes": 306, "number_of_strs": 0, "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" }, { "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11191", "gene_name": "SRY-box 11", "omim_gene": [ "600898" ], "alias_name": [ "SRY-related HMG-box gene 11" ], "gene_symbol": "SOX11", "hgnc_symbol": "SOX11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:5832799-5841516", "ensembl_id": "ENSG00000176887" } }, "GRch38": { "90": { "location": "2:5692667-5701385", "ensembl_id": "ENSG00000176887" } } }, "hgnc_date_symbol_changed": "1995-06-08" }, "entity_type": "gene", "entity_name": "SOX11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27", "Coffin-Siris syndrome 9, 615866" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 479, "hash_id": null, "name": "Paediatric disorders - additional genes", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.10", "version_created": "2024-04-23T13:17:46.871917Z", "relevant_disorders": [], "stats": { "number_of_genes": 66, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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." }, { "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)" } ] }, "transcript": null }, { "gene_data": { "alias": [ "RX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18662", "gene_name": "retina and anterior neural fold homeobox", "omim_gene": [ "601881" ], "alias_name": null, "gene_symbol": "RAX", "hgnc_symbol": "RAX", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "18:56934267-56941318", "ensembl_id": "ENSG00000134438" } }, "GRch38": { "90": { "location": "18:59267035-59274086", "ensembl_id": "ENSG00000134438" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "RAX", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "30811539", "18783408", "14662654" ], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "Microphthalmia, isolated 3, OMIM:611038", "isolated microphthalmia 3, MONDO:0012604" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 34, "hash_id": "553f97abbb5a1616e5ed45f9", "name": "Anophthalmia or microphthalmia", "disease_group": "Ophthalmological disorders", "disease_sub_group": "Ocular malformations", "status": "public", "version": "1.51", "version_created": "2022-10-06T21:20:08.139573Z", "relevant_disorders": [ "Anophthalmia or microphthamia", "Anophthalmia/microphthamia", "Anophthalmia/microphthalmia" ], "stats": { "number_of_genes": 63, "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": [ "DUP", "RIS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24576", "gene_name": "chromatin licensing and DNA replication factor 1", "omim_gene": [ "605525" ], "alias_name": null, "gene_symbol": "CDT1", "hgnc_symbol": "CDT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88869621-88875666", "ensembl_id": "ENSG00000167513" } }, "GRch38": { "90": { "location": "16:88803213-88809258", "ensembl_id": "ENSG00000167513" } } }, "hgnc_date_symbol_changed": "2006-05-25" }, "entity_type": "gene", "entity_name": "CDT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21358632" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Meier-Gorlin syndrome 4, OMIM:613804" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 473, "hash_id": null, "name": "Growth failure in early childhood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.95", "version_created": "2024-04-26T11:10:29.393021Z", "relevant_disorders": [ "R147" ], "stats": { "number_of_genes": 162, "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." } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4006", "gene_name": "alpha-L-fucosidase 1", "omim_gene": [ "612280" ], "alias_name": [ "α-L-fucosidase 1", "tissue fucosidase", "a-L-fucosidase 1" ], "gene_symbol": "FUCA1", "hgnc_symbol": "FUCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24171567-24194784", "ensembl_id": "ENSG00000179163" } }, "GRch38": { "90": { "location": "1:23845077-23868294", "ensembl_id": "ENSG00000179163" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FUCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10094192", "27706744", "29588375", "8504303" ], "evidence": [ "Wessex and West Midlands GLH", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fucosidosis, 230000", "seizures" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 402, "hash_id": null, "name": "Early onset or syndromic epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Inherited Epilepsy Syndromes", "status": "public", "version": "4.196", "version_created": "2024-04-24T16:35:47.828337Z", "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", "Early onset or syndromic epilepsy", "Genetic epilepsy syndromes", "R59" ], "stats": { "number_of_genes": 828, "number_of_strs": 2, "number_of_regions": 17 }, "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": "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": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0838", "GLS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4331", "gene_name": "glutaminase", "omim_gene": [ "138280" ], "alias_name": null, "gene_symbol": "GLS", "hgnc_symbol": "GLS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:191745553-191830278", "ensembl_id": "ENSG00000115419" } }, "GRch38": { "90": { "location": "2:190880827-190965552", "ensembl_id": "ENSG00000115419" } } }, "hgnc_date_symbol_changed": "1989-02-07" }, "entity_type": "gene", "entity_name": "GLS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30970188" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412", "Developmental and epileptic encephalopathy 71, OMIM:618328", "?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "watchlist", "STR", "watchlist_moi" ], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.557", "version_created": "2024-04-26T21:56:31.353100Z", "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", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "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" }, { "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": [ "fragilis4", "Hrmp1", "BRIL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16644", "gene_name": "interferon induced transmembrane protein 5", "omim_gene": [ "614757" ], "alias_name": null, "gene_symbol": "IFITM5", "hgnc_symbol": "IFITM5", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "11:298200-299526", "ensembl_id": "ENSG00000206013" } }, "GRch38": { "90": { "location": "11:298200-299526", "ensembl_id": "ENSG00000206013" } } }, "hgnc_date_symbol_changed": "2006-09-21" }, "entity_type": "gene", "entity_name": "IFITM5", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "Osteogenesis imperfecta, type V, 610967" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.557", "version_created": "2024-04-26T21:56:31.353100Z", "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", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "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" }, { "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": [ "SCS", "H-twist", "BPES2", "bHLHa38", "CRS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12428", "gene_name": "twist family bHLH transcription factor 1", "omim_gene": [ "601622" ], "alias_name": [ "Saethre-Chotzen syndrome" ], "gene_symbol": "TWIST1", "hgnc_symbol": "TWIST1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "7:19060614-19157295", "ensembl_id": "ENSG00000122691" } }, "GRch38": { "90": { "location": "7:19020991-19117672", "ensembl_id": "ENSG00000122691" } } }, "hgnc_date_symbol_changed": "2003-03-28" }, "entity_type": "gene", "entity_name": "TWIST1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "17343269" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [ "SAETHRE-CHOTZEN SYNDROME" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.557", "version_created": "2024-04-26T21:56:31.353100Z", "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", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "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" }, { "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6595", "gene_name": "LIM homeobox 3", "omim_gene": [ "600577" ], "alias_name": null, "gene_symbol": "LHX3", "hgnc_symbol": "LHX3", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "9:139088096-139096955", "ensembl_id": "ENSG00000107187" } }, "GRch38": { "90": { "location": "9:136196250-136205109", "ensembl_id": "ENSG00000107187" } } }, "hgnc_date_symbol_changed": "2000-03-22" }, "entity_type": "gene", "entity_name": "LHX3", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "Gene2Phenotype confirmed gene with ID HPO" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.557", "version_created": "2024-04-26T21:56:31.353100Z", "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", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "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" }, { "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": [ "FLJ10998", "hDrn1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25613", "gene_name": "CWF19 like 1, cell cycle control (S. pombe)", "omim_gene": [ "616120" ], "alias_name": null, "gene_symbol": "CWF19L1", "hgnc_symbol": "CWF19L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:101992055-102027437", "ensembl_id": "ENSG00000095485" } }, "GRch38": { "90": { "location": "10:100232298-100267680", "ensembl_id": "ENSG00000095485" } } }, "hgnc_date_symbol_changed": "2004-03-08" }, "entity_type": "gene", "entity_name": "CWF19L1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "25361784", "15981765", "26197978", "27016154", "30167849" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 17, 616127", "intellectual disability, developmental delay" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.557", "version_created": "2024-04-26T21:56:31.353100Z", "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", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "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" }, { "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": [ "ODC1", "ODC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14411", "gene_name": "solute carrier family 25 member 21", "omim_gene": [ "607571" ], "alias_name": null, "gene_symbol": "SLC25A21", "hgnc_symbol": "SLC25A21", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:37147636-37642071", "ensembl_id": "ENSG00000183032" } }, "GRch38": { "90": { "location": "14:36678431-37172866", "ensembl_id": "ENSG00000183032" } } }, "hgnc_date_symbol_changed": "2001-01-18" }, "entity_type": "gene", "entity_name": "SLC25A21", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29517768" ], "evidence": [ "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "No OMIM phenotype" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 112, "hash_id": "55928cf522c1fc4f7d26e960", "name": "Mitochondrial disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "Mitochondrial", "status": "public", "version": "4.169", "version_created": "2024-04-24T16:20:06.131745Z", "relevant_disorders": [ "Lactic acidosis", "All recognised syndromes and those with suggestive features" ], "stats": { "number_of_genes": 487, "number_of_strs": 2, "number_of_regions": 1 }, "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" }, { "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": [ "MGC23130", "MiD49" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17920", "gene_name": "mitochondrial elongation factor 2", "omim_gene": [ "615498" ], "alias_name": null, "gene_symbol": "MIEF2", "hgnc_symbol": "MIEF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:18163848-18169866", "ensembl_id": "ENSG00000177427" } }, "GRch38": { "90": { "location": "17:18260534-18266552", "ensembl_id": "ENSG00000177427" } } }, "hgnc_date_symbol_changed": "2013-09-23" }, "entity_type": "gene", "entity_name": "MIEF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29361167" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "?Combined oxidative phosphorylation deficiency 49, OMIM:619024" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 112, "hash_id": "55928cf522c1fc4f7d26e960", "name": "Mitochondrial disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "Mitochondrial", "status": "public", "version": "4.169", "version_created": "2024-04-24T16:20:06.131745Z", "relevant_disorders": [ "Lactic acidosis", "All recognised syndromes and those with suggestive features" ], "stats": { "number_of_genes": 487, "number_of_strs": 2, "number_of_regions": 1 }, "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" }, { "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": [ "DKFZP564A022", "ADSA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25358", "gene_name": "ring finger protein 170", "omim_gene": [ "614649" ], "alias_name": null, "gene_symbol": "RNF170", "hgnc_symbol": "RNF170", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42704780-42752433", "ensembl_id": "ENSG00000120925" } }, "GRch38": { "90": { "location": "8:42849637-42897290", "ensembl_id": "ENSG00000120925" } } }, "hgnc_date_symbol_changed": "2005-01-26" }, "entity_type": "gene", "entity_name": "RNF170", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "London North GLH", "NHS GMS", "Wessex and West Midlands GLH", "Expert Review Green", "Hereditary ataxia v1.148" ], "phenotypes": [ "Autosomal dominant sensory ataxia 1, 608984", "Ataxia, sensory, 1, autosomal dominant" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 466, "hash_id": null, "name": "Hereditary ataxia with onset in adulthood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.34", "version_created": "2024-04-18T21:35:40.968399Z", "relevant_disorders": [ "Hereditary ataxia - adult onset", "R54" ], "stats": { "number_of_genes": 248, "number_of_strs": 15, "number_of_regions": 4 }, "types": [ { "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", "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "Kv1.1", "RBK1", "HUK1", "MBK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6218", "gene_name": "potassium voltage-gated channel subfamily A member 1", "omim_gene": [ "176260" ], "alias_name": null, "gene_symbol": "KCNA1", "hgnc_symbol": "KCNA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:5019071-5040527", "ensembl_id": "ENSG00000111262" } }, "GRch38": { "90": { "location": "12:4909893-4918256", "ensembl_id": "ENSG00000111262" } } }, "hgnc_date_symbol_changed": "1991-08-13" }, "entity_type": "gene", "entity_name": "KCNA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17575281" ], "evidence": [ "NHS GMS", "Wessex and West Midlands GLH", "Expert Review Green", "Brain channelopathy v1.46", "Hereditary ataxia v1.148" ], "phenotypes": [ "myokymia with periodic ataxia", "Episodic ataxia/myokymia syndrome", "EPISODIC ATAXIA, TYPE 1", "Episodic ataxia/myokymia syndrome, 160120" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "treatable" ], "panel": { "id": 466, "hash_id": null, "name": "Hereditary ataxia with onset in adulthood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.34", "version_created": "2024-04-18T21:35:40.968399Z", "relevant_disorders": [ "Hereditary ataxia - adult onset", "R54" ], "stats": { "number_of_genes": 248, "number_of_strs": 15, "number_of_regions": 4 }, "types": [ { "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", "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "OIP2", "RRP43", "bA421P11.3", "Rrp43p", "EAP2", "p9", "CIP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17035", "gene_name": "exosome component 8", "omim_gene": [ "606019" ], "alias_name": [ "CBP-interacting protein 3", "Opa interacting protein 2" ], "gene_symbol": "EXOSC8", "hgnc_symbol": "EXOSC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:37572953-37583750", "ensembl_id": "ENSG00000120699" } }, "GRch38": { "90": { "location": "13:36998816-37009613", "ensembl_id": "ENSG00000120699" } } }, "hgnc_date_symbol_changed": "2004-03-26" }, "entity_type": "gene", "entity_name": "EXOSC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Wessex and West Midlands GLH" ], "phenotypes": [ "Pontocerebellar hypoplasia type 1C" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 466, "hash_id": null, "name": "Hereditary ataxia with onset in adulthood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.34", "version_created": "2024-04-18T21:35:40.968399Z", "relevant_disorders": [ "Hereditary ataxia - adult onset", "R54" ], "stats": { "number_of_genes": 248, "number_of_strs": 15, "number_of_regions": 4 }, "types": [ { "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", "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0364", "IGDC1", "IGCD1", "INHBP", "MGC75490", "PGSF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5948", "gene_name": "immunoglobulin superfamily member 1", "omim_gene": [ "300137" ], "alias_name": null, "gene_symbol": "IGSF1", "hgnc_symbol": "IGSF1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "X:130407480-130533677", "ensembl_id": "ENSG00000147255" } }, "GRch38": { "90": { "location": "X:131273506-131578899", "ensembl_id": "ENSG00000147255" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "IGSF1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "23143598", "26840047", "27762734", "24108313 (reports that a subset of female carriers show central hypothyroidism)." ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "central hypothyroidism", "hypoprolactinaemia", "GH deficiency", "macroorchidism", "Hypothyroidism, central, and testicular enlargement, 300888" ], "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": 31, "hash_id": "5763f2938f620350a1996046", "name": "Congenital hypothyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "status": "public", "version": "2.18", "version_created": "2023-11-30T12:12:27.487017Z", "relevant_disorders": [ "Congenital hypothyroidism or thyroid agenesis", "R145" ], "stats": { "number_of_genes": 35, "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." }, { "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:969", "gene_name": "Bardet-Biedl syndrome 4", "omim_gene": [ "600374" ], "alias_name": null, "gene_symbol": "BBS4", "hgnc_symbol": "BBS4", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "15:72978527-73030817", "ensembl_id": "ENSG00000140463" } }, "GRch38": { "90": { "location": "15:72686179-72738476", "ensembl_id": "ENSG00000140463" } } }, "hgnc_date_symbol_changed": "1995-07-11" }, "entity_type": "gene", "entity_name": "BBS4", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [ "Eye Disorders", "Bardet-Biedl syndrome 4, 615982" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 307, "hash_id": "56e0238b22c1fc09c97a6e46", "name": "Retinal disorders", "disease_group": "Ophthalmological disorders", "disease_sub_group": "Posterior segment abnormalities", "status": "public", "version": "4.90", "version_created": "2024-04-24T16:37:26.169254Z", "relevant_disorders": [ "Posterior segment abnormalities", "Cone Dysfunction Syndrome", "Developmental macular and foveal dystrophy", "Inherited macular dystrophy", "Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy", "Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy", "Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy", "Rod Dysfunction Syndrome", "Rod-cone dystrophy", "Familial exudative vitreoretinopathy", "Familial exudative retinopathy", "Sorsby retinal dystrophy", "Doyne retinal dystrophy", "R32" ], "stats": { "number_of_genes": 422, "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 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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "mer", "RP38", "c-Eyk", "Tyro12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7027", "gene_name": "MER proto-oncogene, tyrosine kinase", "omim_gene": [ "604705" ], "alias_name": null, "gene_symbol": "MERTK", "hgnc_symbol": "MERTK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:112656056-112787138", "ensembl_id": "ENSG00000153208" } }, "GRch38": { "90": { "location": "2:111898479-112029561", "ensembl_id": "ENSG00000153208" } } }, "hgnc_date_symbol_changed": "1998-11-30" }, "entity_type": "gene", "entity_name": "MERTK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Red" ], "phenotypes": [ "Retinitis pigmentosa 38, 613862", "Eye Disorders" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 509, "hash_id": null, "name": "Structural eye disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.77", "version_created": "2024-04-15T15:47:13.744089Z", "relevant_disorders": [ "R36" ], "stats": { "number_of_genes": 496, "number_of_strs": 0, "number_of_regions": 2 }, "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": [ "FLJ23091", "MRP", "wls", "EVI", "mig-14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30238", "gene_name": "wntless Wnt ligand secretion mediator", "omim_gene": [ "611514" ], "alias_name": [ "wntless homolog" ], "gene_symbol": "WLS", "hgnc_symbol": "WLS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:68564142-68698803", "ensembl_id": "ENSG00000116729" } }, "GRch38": { "90": { "location": "1:68098473-68233120", "ensembl_id": "ENSG00000116729" } } }, "hgnc_date_symbol_changed": "2010-03-02" }, "entity_type": "gene", "entity_name": "WLS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34587386", "25715397" ], "evidence": [ "NHS GMS", "Expert Review Green", "Expert list" ], "phenotypes": [ "Zaki syndrome, OMIM:619648" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 509, "hash_id": null, "name": "Structural eye disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.77", "version_created": "2024-04-15T15:47:13.744089Z", "relevant_disorders": [ "R36" ], "stats": { "number_of_genes": 496, "number_of_strs": 0, "number_of_regions": 2 }, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3437", "gene_name": "ERCC excision repair 5, endonuclease", "omim_gene": [ "133530" ], "alias_name": [ "Cockayne syndrome" ], "gene_symbol": "ERCC5", "hgnc_symbol": "ERCC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:103497194-103528345", "ensembl_id": "ENSG00000134899" } }, "GRch38": { "90": { "location": "13:102844844-102876001", "ensembl_id": "ENSG00000134899" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Red" ], "phenotypes": [ "Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780", "Cerebrooculofacioskeletal syndrome 3, 616570" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 509, "hash_id": null, "name": "Structural eye disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.77", "version_created": "2024-04-15T15:47:13.744089Z", "relevant_disorders": [ "R36" ], "stats": { "number_of_genes": 496, "number_of_strs": 0, "number_of_regions": 2 }, "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": [ "FLJ30899", "dJ310J6.1", "FLJ34235", "bA57L9.1", "BROMI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21485", "gene_name": "TBC1 domain family member 32", "omim_gene": [ "615867" ], "alias_name": [ "broad-minded homolog" ], "gene_symbol": "TBC1D32", "hgnc_symbol": "TBC1D32", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "6:121400640-121655891", "ensembl_id": "ENSG00000146350" } }, "GRch38": { "90": { "location": "6:121079494-121334745", "ensembl_id": "ENSG00000146350" } } }, "hgnc_date_symbol_changed": "2013-07-10" }, "entity_type": "gene", "entity_name": "TBC1D32", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "32573025", "31130284", "32060556", "24285566", "35875813" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Expert list" ], "phenotypes": [ "Orofaciodigital syndrome, MONDO:0015375" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "gene-checked" ], "panel": { "id": 150, "hash_id": "568ea01e22c1fc1c78b6715d", "name": "Rare multisystem ciliopathy disorders", "disease_group": "Ciliopathies", "disease_sub_group": "Congenital malformations caused by ciliopathies", "status": "public", "version": "1.172", "version_created": "2024-04-26T11:22:05.926027Z", "relevant_disorders": [ "Joubert syndrome", "Bardet-Biedl Syndrome" ], "stats": { "number_of_genes": 205, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "PiT-2", "Glvr-2", "Ram-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10947", "gene_name": "solute carrier family 20 member 2", "omim_gene": [ "158378" ], "alias_name": null, "gene_symbol": "SLC20A2", "hgnc_symbol": "SLC20A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42273993-42397069", "ensembl_id": "ENSG00000168575" } }, "GRch38": { "90": { "location": "8:42416475-42541926", "ensembl_id": "ENSG00000168575" } } }, "hgnc_date_symbol_changed": "1993-06-18" }, "entity_type": "gene", "entity_name": "SLC20A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "London North GLH", "Expert Review Green" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 1, OMIM:213600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 540, "hash_id": null, "name": "Adult onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.18", "version_created": "2023-10-26T10:55:08.890471Z", "relevant_disorders": [ "Adult onset movement disorder", "R56" ], "stats": { "number_of_genes": 206, "number_of_strs": 11, "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": [ "DAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11049", "gene_name": "solute carrier family 6 member 3", "omim_gene": [ "126455" ], "alias_name": [ "dopamine transporter" ], "gene_symbol": "SLC6A3", "hgnc_symbol": "SLC6A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:1392909-1445545", "ensembl_id": "ENSG00000142319" } }, "GRch38": { "90": { "location": "5:1392790-1445430", "ensembl_id": "ENSG00000142319" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "SLC6A3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 24613933" ], "evidence": [ "Expert Review Red", "NHS GMS", "London North GLH" ], "phenotypes": [ "Parkinsonism-dystonia, infantile, 613135" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 540, "hash_id": null, "name": "Adult onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.18", "version_created": "2023-10-26T10:55:08.890471Z", "relevant_disorders": [ "Adult onset movement disorder", "R56" ], "stats": { "number_of_genes": 206, "number_of_strs": 11, "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": [ "KIAA0473", "PARK19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15469", "gene_name": "DnaJ heat shock protein family (Hsp40) member C6", "omim_gene": [ "608375" ], "alias_name": [ "auxilin" ], "gene_symbol": "DNAJC6", "hgnc_symbol": "DNAJC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:65713902-65881552", "ensembl_id": "ENSG00000116675" } }, "GRch38": { "90": { "location": "1:65248219-65415869", "ensembl_id": "ENSG00000116675" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "DNAJC6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27687717", "22563501", "23211418", "26528954", "34175496", "26703368", "33181391", "32472658" ], "evidence": [ "NHS GMS", "London North GLH", "Expert Review Green" ], "phenotypes": [ "Parkinson disease 19b, early-onset, OMIM:615528", "Parkinson disease 19a juvenile-onset, OMIM:615528", "juvenile onset Parkinson disease 19A, MONDO:0014231" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 540, "hash_id": null, "name": "Adult onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.18", "version_created": "2023-10-26T10:55:08.890471Z", "relevant_disorders": [ "Adult onset movement disorder", "R56" ], "stats": { "number_of_genes": 206, "number_of_strs": 11, "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": [ "AYP1", "AGS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24116", "gene_name": "ribonuclease H2 subunit C", "omim_gene": [ "610330" ], "alias_name": [ "Aicardi-Goutieres syndrome 3" ], "gene_symbol": "RNASEH2C", "hgnc_symbol": "RNASEH2C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65482367-65488418", "ensembl_id": "ENSG00000172922" } }, "GRch38": { "90": { "location": "11:65714896-65720947", "ensembl_id": "ENSG00000172922" } } }, "hgnc_date_symbol_changed": "2006-08-17" }, "entity_type": "gene", "entity_name": "RNASEH2C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17846997", "25604658", "16845400" ], "evidence": [ "NHS GMS", "South West GLH", "Expert Review Red" ], "phenotypes": [ "Aicardi-Goutieres syndrome 3, 610329", "Dystonia" ], "mode_of_inheritance": "", "tags": [], "panel": { "id": 540, "hash_id": null, "name": "Adult onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.18", "version_created": "2023-10-26T10:55:08.890471Z", "relevant_disorders": [ "Adult onset movement disorder", "R56" ], "stats": { "number_of_genes": 206, "number_of_strs": 11, "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": [ "SRN1", "PDCN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13394", "gene_name": "NPHS2, podocin", "omim_gene": [ "604766" ], "alias_name": null, "gene_symbol": "NPHS2", "hgnc_symbol": "NPHS2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:179519674-179545087", "ensembl_id": "ENSG00000116218" } }, "GRch38": { "90": { "location": "1:179550539-179575952", "ensembl_id": "ENSG00000116218" } } }, "hgnc_date_symbol_changed": "2000-11-21" }, "entity_type": "gene", "entity_name": "NPHS2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green", "Eligibility statement prior genetic testing" ], "phenotypes": [ "Nephrotic syndrome, type 2 #600995" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": "55af787822c1fc78a829f89f", "name": "Proteinuric renal disease", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "Syndromes with prominent renal abnormalities", "status": "public", "version": "4.12", "version_created": "2024-04-12T12:41:22.931773Z", "relevant_disorders": [ "R195" ], "stats": { "number_of_genes": 108, "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": "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": [ "CNF", "NPHN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7908", "gene_name": "NPHS1, nephrin", "omim_gene": [ "602716" ], "alias_name": null, "gene_symbol": "NPHS1", "hgnc_symbol": "NPHS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36316866-36360189", "ensembl_id": "ENSG00000161270" } }, "GRch38": { "90": { "location": "19:35825964-35869287", "ensembl_id": "ENSG00000161270" } } }, "hgnc_date_symbol_changed": "1994-12-14" }, "entity_type": "gene", "entity_name": "NPHS1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Exper review amber", "Literature" ], "phenotypes": [ "MIM 256300", "Nephrotic syndrome type 1", "Glomerulopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 720, "hash_id": null, "name": "Groopman et al 2019 - Genes with diagnostic variants", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.8", "version_created": "2019-07-09T15:48:14.145108Z", "relevant_disorders": [], "stats": { "number_of_genes": 66, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Submitted List", "slug": "submitted-list", "description": "Original list, ratings, comments submitted to PanelApp- generally used for the creation of reference GMS panels, these panels should be internal only" } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2207", "gene_name": "collagen type IV alpha 5 chain", "omim_gene": [ "303630" ], "alias_name": null, "gene_symbol": "COL4A5", "hgnc_symbol": "COL4A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:107683074-107940775", "ensembl_id": "ENSG00000188153" } }, "GRch38": { "90": { "location": "X:108439844-108697545", "ensembl_id": "ENSG00000188153" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL4A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert review green", "Literature" ], "phenotypes": [ "MIM 301050", "Congenital or cystic renal disease", "Nephropathy of unknown origin", "Alport syndrome, X-linked", "Glomerulopathy" ], "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": 720, "hash_id": null, "name": "Groopman et al 2019 - Genes with diagnostic variants", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.8", "version_created": "2019-07-09T15:48:14.145108Z", "relevant_disorders": [], "stats": { "number_of_genes": 66, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Submitted List", "slug": "submitted-list", "description": "Original list, ratings, comments submitted to PanelApp- generally used for the creation of reference GMS panels, these panels should be internal only" } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12404", "gene_name": "alpha tocopherol transfer protein", "omim_gene": [ "600415" ], "alias_name": null, "gene_symbol": "TTPA", "hgnc_symbol": "TTPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:63961112-63998612", "ensembl_id": "ENSG00000137561" } }, "GRch38": { "90": { "location": "8:63048553-63086053", "ensembl_id": "ENSG00000137561" } } }, "hgnc_date_symbol_changed": "1993-07-06" }, "entity_type": "gene", "entity_name": "TTPA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "NHS GMS", "London North GLH", "South West GLH", "Emory Genetics Laboratory", "London North GLH", "NHS GMS", "South West GLH" ], "phenotypes": [ "Hereditary Neuropathies", "Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 846, "hash_id": null, "name": "Hereditary neuropathy or pain disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.94", "version_created": "2024-04-18T18:10:25.032757Z", "relevant_disorders": [ "Hereditary neuropathy NOT PMP22 copy number", "Hereditary neuropathy or pain disorder - NOT PMP22 copy number", "R78" ], "stats": { "number_of_genes": 312, "number_of_strs": 1, "number_of_regions": 2 }, "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": [ "KIAA0321" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20761", "gene_name": "zinc finger FYVE-type containing 26", "omim_gene": [ "612012" ], "alias_name": [ "spastizin", "FYVE-CENT" ], "gene_symbol": "ZFYVE26", "hgnc_symbol": "ZFYVE26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:68194091-68283307", "ensembl_id": "ENSG00000072121" } }, "GRch38": { "90": { "location": "14:67727374-67816590", "ensembl_id": "ENSG00000072121" } } }, "hgnc_date_symbol_changed": "2003-04-01" }, "entity_type": "gene", "entity_name": "ZFYVE26", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "NHS GMS", "London North GLH", "South West GLH", "Emory Genetics Laboratory", "London North GLH", "NHS GMS", "South West GLH" ], "phenotypes": [ "Hereditary Neuropathies", "Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy", "Spastic paraplegia 15, autosomal recessive, 270700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 846, "hash_id": null, "name": "Hereditary neuropathy or pain disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.94", "version_created": "2024-04-18T18:10:25.032757Z", "relevant_disorders": [ "Hereditary neuropathy NOT PMP22 copy number", "Hereditary neuropathy or pain disorder - NOT PMP22 copy number", "R78" ], "stats": { "number_of_genes": 312, "number_of_strs": 1, "number_of_regions": 2 }, "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:1033", "gene_name": "brain derived neurotrophic factor", "omim_gene": [ "113505" ], "alias_name": [ "neurotrophin" ], "gene_symbol": "BDNF", "hgnc_symbol": "BDNF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:27676440-27743605", "ensembl_id": "ENSG00000176697" } }, "GRch38": { "90": { "location": "11:27654893-27722058", "ensembl_id": "ENSG00000176697" } } }, "hgnc_date_symbol_changed": "1991-01-15" }, "entity_type": "gene", "entity_name": "BDNF", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "South West GLH" ], "phenotypes": [ "Central hypoventilation syndrome, congenital, 209880" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 847, "hash_id": null, "name": "Childhood onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.78", "version_created": "2024-04-26T11:22:51.985740Z", "relevant_disorders": [ "Childhood onset dystonia or chorea or related movement disorder", "R57" ], "stats": { "number_of_genes": 976, "number_of_strs": 5, "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 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:4006", "gene_name": "alpha-L-fucosidase 1", "omim_gene": [ "612280" ], "alias_name": [ "α-L-fucosidase 1", "tissue fucosidase", "a-L-fucosidase 1" ], "gene_symbol": "FUCA1", "hgnc_symbol": "FUCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24171567-24194784", "ensembl_id": "ENSG00000179163" } }, "GRch38": { "90": { "location": "1:23845077-23868294", "ensembl_id": "ENSG00000179163" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FUCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31064022" ], "evidence": [ "Expert Review Green", "London North GLH" ], "phenotypes": [ "Fucosidosis OMIM:230000", "fucosidosis MONDO:0009254" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 847, "hash_id": null, "name": "Childhood onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.78", "version_created": "2024-04-26T11:22:51.985740Z", "relevant_disorders": [ "Childhood onset dystonia or chorea or related movement disorder", "R57" ], "stats": { "number_of_genes": 976, "number_of_strs": 5, "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 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": [ "LBN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19747", "gene_name": "EvC ciliary complex subunit 2", "omim_gene": [ "607261" ], "alias_name": [ "limbin" ], "gene_symbol": "EVC2", "hgnc_symbol": "EVC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:5544499-5711275", "ensembl_id": "ENSG00000173040" } }, "GRch38": { "90": { "location": "4:5542772-5709548", "ensembl_id": "ENSG00000173040" } } }, "hgnc_date_symbol_changed": "2003-04-11" }, "entity_type": "gene", "entity_name": "EVC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "PanelApp", "Expert Review Red", "London North GLH" ], "phenotypes": [ "Ellis-van Creveld syndrome, 225500", "Weyers acrofacial dysostosis, 193530" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 847, "hash_id": null, "name": "Childhood onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.78", "version_created": "2024-04-26T11:22:51.985740Z", "relevant_disorders": [ "Childhood onset dystonia or chorea or related movement disorder", "R57" ], "stats": { "number_of_genes": 976, "number_of_strs": 5, "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 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": [ "MGC34275", "MGC125904", "MGC125905" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3007", "gene_name": "dolichyl-phosphate mannosyltransferase subunit 3", "omim_gene": [ "605951" ], "alias_name": [ "DPM synthase complex subunit" ], "gene_symbol": "DPM3", "hgnc_symbol": "DPM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155112367-155113071", "ensembl_id": "ENSG00000179085" } }, "GRch38": { "90": { "location": "1:155139891-155140595", "ensembl_id": "ENSG00000179085" } } }, "hgnc_date_symbol_changed": "2000-06-29" }, "entity_type": "gene", "entity_name": "DPM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "Cav3.1", "NBR13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1394", "gene_name": "calcium voltage-gated channel subunit alpha1 G", "omim_gene": [ "604065" ], "alias_name": null, "gene_symbol": "CACNA1G", "hgnc_symbol": "CACNA1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48638429-48704835", "ensembl_id": "ENSG00000006283" } }, "GRch38": { "90": { "location": "17:50561068-50627474", "ensembl_id": "ENSG00000006283" } } }, "hgnc_date_symbol_changed": "1999-01-08" }, "entity_type": "gene", "entity_name": "CACNA1G", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 42, 616795", "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "CD220" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6091", "gene_name": "insulin receptor", "omim_gene": [ "147670" ], "alias_name": null, "gene_symbol": "INSR", "hgnc_symbol": "INSR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7112266-7294045", "ensembl_id": "ENSG00000171105" } }, "GRch38": { "90": { "location": "19:7112255-7294034", "ensembl_id": "ENSG00000171105" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "INSR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Leprechaunism, 246200", "Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549", "Rabson-Mendenhall syndrome, 262190", "Hyperinsulinemic hypoglycemia, familial, 5, 609968" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "CSPGCP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:319", "gene_name": "aggrecan", "omim_gene": [ "155760" ], "alias_name": [ "aggrecan proteoglycan" ], "gene_symbol": "ACAN", "hgnc_symbol": "ACAN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:89346674-89418585", "ensembl_id": "ENSG00000157766" } }, "GRch38": { "90": { "location": "15:88803443-88875354", "ensembl_id": "ENSG00000157766" } } }, "hgnc_date_symbol_changed": "2007-02-16" }, "entity_type": "gene", "entity_name": "ACAN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Spondyloepimetaphyseal dysplasia, aggrecan type, 612813", "Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800", "?Spondyloepiphyseal dysplasia, Kimberley type, 608361" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:132", "gene_name": "actin beta", "omim_gene": [ "102630" ], "alias_name": null, "gene_symbol": "ACTB", "hgnc_symbol": "ACTB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:5566782-5603415", "ensembl_id": "ENSG00000075624" } }, "GRch38": { "90": { "location": "7:5527151-5563784", "ensembl_id": "ENSG00000075624" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACTB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Baraitser-Winter syndrome 1, 243310" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "COMT2", "CFAP111" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25033", "gene_name": "leucine rich transmembrane and O-methyltransferase domain containing", "omim_gene": [ "612414" ], "alias_name": null, "gene_symbol": "LRTOMT", "hgnc_symbol": "LRTOMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71791382-71821828", "ensembl_id": "ENSG00000184154" } }, "GRch38": { "90": { "location": "11:72080331-72110782", "ensembl_id": "ENSG00000184154" }, "107": { "location": "11:72080331-72110782", "ensembl_id": "ENSG00000284922" } } }, "hgnc_date_symbol_changed": "2008-11-27" }, "entity_type": "gene", "entity_name": "LRTOMT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Deafness, autosomal recessive 63, 611451" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "DXS423E", "KIAA0178", "SB1.8", "Smcb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11111", "gene_name": "structural maintenance of chromosomes 1A", "omim_gene": [ "300040" ], "alias_name": null, "gene_symbol": "SMC1A", "hgnc_symbol": "SMC1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:53401070-53449677", "ensembl_id": "ENSG00000072501" } }, "GRch38": { "90": { "location": "X:53374149-53422728", "ensembl_id": "ENSG00000072501" } } }, "hgnc_date_symbol_changed": "2006-07-06" }, "entity_type": "gene", "entity_name": "SMC1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Cornelia de Lange syndrome 2, OMIM:300590", "Cornelia de Lange syndrome 2, MONDO:0010370", "Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044", "Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771" ], "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": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "BS69" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16966", "gene_name": "zinc finger MYND-type containing 11", "omim_gene": [ "608668" ], "alias_name": null, "gene_symbol": "ZMYND11", "hgnc_symbol": "ZMYND11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:180405-300577", "ensembl_id": "ENSG00000015171" } }, "GRch38": { "90": { "location": "10:134465-254637", "ensembl_id": "ENSG00000015171" } } }, "hgnc_date_symbol_changed": "2004-04-20" }, "entity_type": "gene", "entity_name": "ZMYND11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Mental retardation, autosomal dominant 30, 616083" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "HHG2", "BDA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5956", "gene_name": "indian hedgehog", "omim_gene": [ "600726" ], "alias_name": null, "gene_symbol": "IHH", "hgnc_symbol": "IHH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219919142-219925189", "ensembl_id": "ENSG00000163501" } }, "GRch38": { "90": { "location": "2:219054420-219060467", "ensembl_id": "ENSG00000163501" } } }, "hgnc_date_symbol_changed": "1995-03-21" }, "entity_type": "gene", "entity_name": "IHH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Acrocapitofemoral dysplasia, 607778", "Brachydactyly, type A1, 112500" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "Hs.6719", "BCS", "h-BCS", "BJS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1020", "gene_name": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone", "omim_gene": [ "603647" ], "alias_name": [ "GRACILE syndrome", "Bjornstad syndrome" ], "gene_symbol": "BCS1L", "hgnc_symbol": "BCS1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219523487-219528166", "ensembl_id": "ENSG00000074582" } }, "GRch38": { "90": { "location": "2:218658764-218663443", "ensembl_id": "ENSG00000074582" } } }, "hgnc_date_symbol_changed": "1998-07-03" }, "entity_type": "gene", "entity_name": "BCS1L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1217, "hash_id": null, "name": "Paediatric pseudo-obstruction syndrome", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.5", "version_created": "2023-10-26T10:51:14.464501Z", "relevant_disorders": [ "R438" ], "stats": { "number_of_genes": 55, "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 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 } ] }