Entity Search List
Search Entities
GET /api/v1/entities/?format=api&page=327
{ "count": 35330, "next": "https://panelapp.genomicsengland.co.uk/api/v1/entities/?format=api&page=328", "previous": "https://panelapp.genomicsengland.co.uk/api/v1/entities/?format=api&page=326", "results": [ { "gene_data": { "alias": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, mismatch repair system component", "omim_gene": [ "600259" ], "alias_name": null, "gene_symbol": "PMS2", "hgnc_symbol": "PMS2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "7:6012870-6048756", "ensembl_id": "ENSG00000122512" } }, "GRch38": { "90": { "location": "7:5973239-6009125", "ensembl_id": "ENSG00000122512" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS2", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Emory Genetics Laboratory" ], "phenotypes": [ "Breast and Ovarian Cancer" ], "mode_of_inheritance": "", "tags": [], "panel": { "id": 158, "hash_id": "55b62bc422c1fc05fc7a1857", "name": "Familial breast cancer", "disease_group": "Tumour syndromes", "disease_sub_group": "Breast and endocrine", "status": "public", "version": "1.20", "version_created": "2023-07-05T11:28:18.013178Z", "relevant_disorders": [ "Familial breast and or ovarian cancer" ], "stats": { "number_of_genes": 27, "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": [ "FLJ37472", "DHDPS2", "NPL2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25155", "gene_name": "4-hydroxy-2-oxoglutarate aldolase 1", "omim_gene": [ "613597" ], "alias_name": [ "dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)" ], "gene_symbol": "HOGA1", "hgnc_symbol": "HOGA1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "10:99344080-99372559", "ensembl_id": "ENSG00000241935" } }, "GRch38": { "90": { "location": "10:97584323-97612802", "ensembl_id": "ENSG00000241935" } } }, "hgnc_date_symbol_changed": "2010-12-19" }, "entity_type": "gene", "entity_name": "HOGA1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Radboud University Medical Center, Nijmegen", "UKGTN", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "Hyperoxaluria, primary, type III 613616" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 114, "hash_id": "57b6f5058f6203767a308772", "name": "Peroxisomal disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "Peroxisomal disorders", "status": "public", "version": "1.19", "version_created": "2022-04-01T16:23:23.030983Z", "relevant_disorders": [ "Other peroxisomal disorders", "Peroxisomal biogenesis disorders" ], "stats": { "number_of_genes": 38, "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": [ "KIAA0803", "AKAP350", "AKAP450", "CG-NAP", "YOTIAO", "HYPERION", "PRKA9", "MU-RMS-40.16A", "PPP1R45", "LQT11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:379", "gene_name": "A-kinase anchoring protein 9", "omim_gene": [ "604001" ], "alias_name": [ "A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao" ], "gene_symbol": "AKAP9", "hgnc_symbol": "AKAP9", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "7:91570181-91739987", "ensembl_id": "ENSG00000127914" } }, "GRch38": { "90": { "location": "7:91940867-92110673", "ensembl_id": "ENSG00000127914" } } }, "hgnc_date_symbol_changed": "1999-09-16" }, "entity_type": "gene", "entity_name": "AKAP9", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "18093912", "11799244" ], "evidence": [ "ClinGen", "Expert Review Red", "Other" ], "phenotypes": [ "Long Qt Syndrome 11", "OMIM:611820", "Orphanet:101016" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 64, "hash_id": "58ee38f88f62033bda307d54", "name": "ClinGen Gene Validity Curations", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.65", "version_created": "2024-04-09T15:06:35.122440Z", "relevant_disorders": [], "stats": { "number_of_genes": 47, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "ClinGen Curated genes", "slug": "clingen-curated-genes", "description": "ClinGen Curated genes" } ] }, "transcript": null }, { "gene_data": { "alias": [ "MLCK", "smMLCK", "MYLK1", "MLCK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7590", "gene_name": "myosin light chain kinase", "omim_gene": [ "600922" ], "alias_name": [ "smooth muscle myosin light chain kinase" ], "gene_symbol": "MYLK", "hgnc_symbol": "MYLK", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "3:123328896-123603178", "ensembl_id": "ENSG00000065534" } }, "GRch38": { "90": { "location": "3:123610049-123884331", "ensembl_id": "ENSG00000065534" } } }, "hgnc_date_symbol_changed": "1995-07-14" }, "entity_type": "gene", "entity_name": "MYLK", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "Familial thoracic aortic aneurysm and aortic dissection" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 210, "hash_id": "594be3878f62037ee3e7e72f", "name": "ClinGen_Familial thoracic aortic aneurysm and aortic dissection", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.11", "version_created": "2022-05-10T08:06:01.752470Z", "relevant_disorders": [], "stats": { "number_of_genes": 53, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "ClinGen Curated genes", "slug": "clingen-curated-genes", "description": "ClinGen Curated genes" } ] }, "transcript": null }, { "gene_data": { "alias": [ "CPTASE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2330", "gene_name": "carnitine palmitoyltransferase 2", "omim_gene": [ "600650" ], "alias_name": null, "gene_symbol": "CPT2", "hgnc_symbol": "CPT2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:53662101-53679869", "ensembl_id": "ENSG00000157184" } }, "GRch38": { "90": { "location": "1:53196429-53214197", "ensembl_id": "ENSG00000157184" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "CPT2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN", "Illumina TruGenome Clinical Sequencing Services", "Emory Genetics Laboratory" ], "phenotypes": [ "CPT II deficiency, infantile, OMIM:600649", "CPT II deficiency, lethal neonatal, OMIM:608836" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 267, "hash_id": "5548cc07bb5a16250cc22015", "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "Urea Cycle disorders", "status": "public", "version": "1.21", "version_created": "2023-08-08T09:43:56.242433Z", "relevant_disorders": [], "stats": { "number_of_genes": 106, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:663", "gene_name": "arginase 1", "omim_gene": [ "608313" ], "alias_name": null, "gene_symbol": "ARG1", "hgnc_symbol": "ARG1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "6:131894284-131905472", "ensembl_id": "ENSG00000118520" } }, "GRch38": { "90": { "location": "6:131573144-131584332", "ensembl_id": "ENSG00000118520" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ARG1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Argininemia, OMIM:207800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 267, "hash_id": "5548cc07bb5a16250cc22015", "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "Urea Cycle disorders", "status": "public", "version": "1.21", "version_created": "2023-08-08T09:43:56.242433Z", "relevant_disorders": [], "stats": { "number_of_genes": 106, "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": [ "p22-PHOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2577", "gene_name": "cytochrome b-245 alpha chain", "omim_gene": [ "608508" ], "alias_name": [ "flavocytochrome b-558 alpha polypeptide" ], "gene_symbol": "CYBA", "hgnc_symbol": "CYBA", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "16:88709691-88717560", "ensembl_id": "ENSG00000051523" } }, "GRch38": { "90": { "location": "16:88643283-88651152", "ensembl_id": "ENSG00000051523" } } }, "hgnc_date_symbol_changed": "1990-01-15" }, "entity_type": "gene", "entity_name": "CYBA", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease." ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN", "Emory Genetics Laboratory", "Expert list" ], "phenotypes": [ "Chronic granulomatous disease, autosomal, due to deficiency of CYBA\t233690" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 176, "hash_id": "56ba026c22c1fc5025762b50", "name": "Infantile enterocolitis & monogenic inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "Gastrointestinal disorders", "status": "public", "version": "1.44", "version_created": "2024-04-26T11:03:45.504230Z", "relevant_disorders": [ "Infantile enterocolitis and monogenic inflammatory bowel disease" ], "stats": { "number_of_genes": 69, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0384", "p120", "p120cas", "p120ctn" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2515", "gene_name": "catenin delta 1", "omim_gene": [ "601045" ], "alias_name": null, "gene_symbol": "CTNND1", "hgnc_symbol": "CTNND1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:57520715-57587018", "ensembl_id": "ENSG00000198561" } }, "GRch38": { "90": { "location": "11:57753243-57819546", "ensembl_id": "ENSG00000198561" } } }, "hgnc_date_symbol_changed": "1995-09-18" }, "entity_type": "gene", "entity_name": "CTNND1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32196547" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "chonal atresia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 221, "hash_id": "553f9697bb5a1616e5ed45d3", "name": "Choanal atresia", "disease_group": "Skeletal disorders", "disease_sub_group": "Choanal anomalies", "status": "public", "version": "1.16", "version_created": "2022-02-14T11:23:27.044303Z", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": [] }, { "gene_data": { "alias": [ "Tyro11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3395", "gene_name": "EPH receptor B4", "omim_gene": [ "600011" ], "alias_name": null, "gene_symbol": "EPHB4", "hgnc_symbol": "EPHB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100400187-100425121", "ensembl_id": "ENSG00000196411" } }, "GRch38": { "90": { "location": "7:100802565-100827521", "ensembl_id": "ENSG00000196411" } } }, "hgnc_date_symbol_changed": "1994-12-15" }, "entity_type": "gene", "entity_name": "EPHB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "2990564", "27400125" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lymphatic malformation 7, OMIM:617300" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 144, "hash_id": "5763f4868f620350a199604f", "name": "Fetal hydrops", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Fetal disorders", "status": "public", "version": "1.64", "version_created": "2024-03-11T16:21:50.989347Z", "relevant_disorders": [], "stats": { "number_of_genes": 111, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8840", "gene_name": "peptidase D", "omim_gene": [ "613230" ], "alias_name": [ "prolidase" ], "gene_symbol": "PEPD", "hgnc_symbol": "PEPD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:33877856-34012700", "ensembl_id": "ENSG00000124299" } }, "GRch38": { "90": { "location": "19:33386950-33521794", "ensembl_id": "ENSG00000124299" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PEPD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "6637477", "19308961", "15309682", "17142620", "8900231", "1972707", "2365824", "16470701" ], "evidence": [ "IUIS Classification February 2018", "London North GLH", "NHS GMS", "North West GLH", "Expert Review Green", "NHS GMS", "North West GLH", "London North GLH", "Expert Review Green", "IUIS Classification February 2018" ], "phenotypes": [ "Prolidase deficiency, 170100", "Autoantibodies common, chronic skin ulcers, eczema, infections", "Diseases of Immune Dysregulation" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5389", "gene_name": "iduronate 2-sulfatase", "omim_gene": [ "300823" ], "alias_name": [ "Hunter syndrome" ], "gene_symbol": "IDS", "hgnc_symbol": "IDS", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "X:148558521-148615470", "ensembl_id": "ENSG00000010404" } }, "GRch38": { "90": { "location": "X:149476990-149521096", "ensembl_id": "ENSG00000010404" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "IDS", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Emory Genetics Laboratory", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Mucopolysaccharidosis II 309900" ], "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": 61, "hash_id": "578e26918f62031b478bdb68", "name": "Gastrointestinal neuromuscular disorders", "disease_group": "Gastroenterological disorders", "disease_sub_group": "Gastrointestinal disorders", "status": "public", "version": "1.23", "version_created": "2022-12-20T16:15:00.750294Z", "relevant_disorders": [ "Neonatal and familial gastrointestinal neuromuscular disorders", "Infantile pseudo-obstruction", "Early onset or familial intestinal pseudo obstruction" ], "stats": { "number_of_genes": 30, "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": [ "LGMD2I", "MDC1C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17997", "gene_name": "fukutin related protein", "omim_gene": [ "606596" ], "alias_name": null, "gene_symbol": "FKRP", "hgnc_symbol": "FKRP", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "19:47249303-47280245", "ensembl_id": "ENSG00000181027" } }, "GRch38": { "90": { "location": "19:46746046-46776988", "ensembl_id": "ENSG00000181027" } } }, "hgnc_date_symbol_changed": "2003-12-04" }, "entity_type": "gene", "entity_name": "FKRP", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "15121789", "20236121" ], "evidence": [ "NHS GMS", "Expert Review Green", "Literature" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 179, "hash_id": "5763f35c8f620350a22bccdf", "name": "Hydrocephalus", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.4", "version_created": "2024-02-26T12:23:29.243504Z", "relevant_disorders": [ "Hydrocephalus", "R86" ], "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 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": [ "LGN", "Pins" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29501", "gene_name": "G protein signaling modulator 2", "omim_gene": [ "609245" ], "alias_name": null, "gene_symbol": "GPSM2", "hgnc_symbol": "GPSM2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:109417972-109477167", "ensembl_id": "ENSG00000121957" } }, "GRch38": { "90": { "location": "1:108875350-108934545", "ensembl_id": "ENSG00000121957" } } }, "hgnc_date_symbol_changed": "2004-02-03" }, "entity_type": "gene", "entity_name": "GPSM2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "22578326" ], "evidence": [ "NHS GMS", "Expert Review Green", "Literature" ], "phenotypes": [ "Chudley-McCullough syndrome, OMIM:604213" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 179, "hash_id": "5763f35c8f620350a22bccdf", "name": "Hydrocephalus", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.4", "version_created": "2024-02-26T12:23:29.243504Z", "relevant_disorders": [ "Hydrocephalus", "R86" ], "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 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": [ "ADHAPS", "ADAS", "ALDHPSY", "ADPS", "ADAP-S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:327", "gene_name": "alkylglycerone phosphate synthase", "omim_gene": [ "603051" ], "alias_name": null, "gene_symbol": "AGPS", "hgnc_symbol": "AGPS", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "2:178257372-178408564", "ensembl_id": "ENSG00000018510" } }, "GRch38": { "90": { "location": "2:177392644-177559299", "ensembl_id": "ENSG00000018510" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "AGPS", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Lipodystrophy, congenital generalized, type 1, 608594" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 174, "hash_id": "55b2109c22c1fc7dd7ce411f", "name": "Insulin resistance (including lipodystrophy)", "disease_group": "Endocrine disorders", "disease_sub_group": "Disorders of unusual phenotypes", "status": "public", "version": "1.17", "version_created": "2024-04-24T16:41:15.360103Z", "relevant_disorders": [ "Insulin resistance (including lipodystrophy" ], "stats": { "number_of_genes": 26, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "ISU2", "hnifU", "IscU" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29882", "gene_name": "iron-sulfur cluster assembly enzyme", "omim_gene": [ "611911" ], "alias_name": null, "gene_symbol": "ISCU", "hgnc_symbol": "ISCU", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "12:108956358-108963160", "ensembl_id": "ENSG00000136003" } }, "GRch38": { "90": { "location": "12:108562582-108569384", "ensembl_id": "ENSG00000136003" } } }, "hgnc_date_symbol_changed": "2006-10-24" }, "entity_type": "gene", "entity_name": "ISCU", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "21165651", "22125086", "29079705" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Myopathy with lactic acidosis, hereditary\t255125" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "non-coding-known-pathogenic", "to_be_confirmed_NHSE", "for-review" ], "panel": { "id": 66, "hash_id": "55b63d7f22c1fc05fc7a185b", "name": "Rhabdomyolysis and metabolic muscle disorders", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "3.48", "version_created": "2024-01-08T23:39:00.723625Z", "relevant_disorders": [], "stats": { "number_of_genes": 72, "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:8856", "gene_name": "peroxisomal biogenesis factor 14", "omim_gene": [ "601791" ], "alias_name": null, "gene_symbol": "PEX14", "hgnc_symbol": "PEX14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:10532345-10690815", "ensembl_id": "ENSG00000142655" } }, "GRch38": { "90": { "location": "1:10472288-10630758", "ensembl_id": "ENSG00000142655" } } }, "hgnc_date_symbol_changed": "1998-08-21" }, "entity_type": "gene", "entity_name": "PEX14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15146459" ], "evidence": [ "Expert Review Amber" ], "phenotypes": [ "Peroxisome-Associated Disorders & Zellweger Syndrome", "PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 476, "hash_id": null, "name": "White matter disorders and cerebral calcification - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.35", "version_created": "2024-04-15T09:49:29.279545Z", "relevant_disorders": [], "stats": { "number_of_genes": 244, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10709" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25567", "gene_name": "ATPase family, AAA domain containing 3A", "omim_gene": [ "612316" ], "alias_name": null, "gene_symbol": "ATAD3A", "hgnc_symbol": "ATAD3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1447531-1470067", "ensembl_id": "ENSG00000197785" } }, "GRch38": { "90": { "location": "1:1512151-1534687", "ensembl_id": "ENSG00000197785" } } }, "hgnc_date_symbol_changed": "2007-02-08" }, "entity_type": "gene", "entity_name": "ATAD3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27640307", "28549128", "29053797", "31727539", "32607449", "33845882" ], "evidence": [ "NHS GMS", "Expert Review Green", "Expert Review" ], "phenotypes": [ "Harel-Yoon syndrome, OMIM:617183", "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810" ], "mode_of_inheritance": "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2201", "gene_name": "collagen type III alpha 1 chain", "omim_gene": [ "120180" ], "alias_name": null, "gene_symbol": "COL3A1", "hgnc_symbol": "COL3A1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "2:189839046-189877472", "ensembl_id": "ENSG00000168542" } }, "GRch38": { "90": { "location": "2:188974320-189012746", "ensembl_id": "ENSG00000168542" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL3A1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "26666608", "25940258", "9147885", "7369469" ], "evidence": [ "NHS GMS", "Expert Review Green", "Expert list" ], "phenotypes": [ "Ehlers-Danlos syndrome, vascular type, OMIM:130050" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 105, "hash_id": "572c908e8f62036eed0a39c8", "name": "Pneumothorax - familial", "disease_group": "Respiratory disorders", "disease_sub_group": "Structural lung disorders", "status": "public", "version": "3.5", "version_created": "2023-10-26T01:19:54.026802Z", "relevant_disorders": [ "Familial Pneumothorax", "Familial Primary Spontaneous Pneumothorax", "R190" ], "stats": { "number_of_genes": 35, "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": [ "BUBR1", "MAD3L", "Bub1A", "SSK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1149", "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B", "omim_gene": [ "602860" ], "alias_name": null, "gene_symbol": "BUB1B", "hgnc_symbol": "BUB1B", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "15:40453224-40513337", "ensembl_id": "ENSG00000156970" } }, "GRch38": { "90": { "location": "15:40161023-40221136", "ensembl_id": "ENSG00000156970" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "BUB1B", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "15475955" ], "evidence": [ "NHS GMS", "Expert List", "Expert Review Green", "Expert list" ], "phenotypes": [ "Mosaic variegated aneuploidy syndrome 1 257300", "257300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 243, "hash_id": "55af539322c1fc78a9ef5052", "name": "Childhood solid tumours", "disease_group": "Tumour syndromes", "disease_sub_group": "Childhood Tumours", "status": "public", "version": "4.18", "version_created": "2024-04-11T12:52:20.613240Z", "relevant_disorders": [ "Paediatric congenital malformation-dysmorphism-tumour syndrome", "Paediatric congenital malformation-dysmorphism-tumour syndromes", "Paediatric congenital malformation-dysmorphism-tumour sydromes", "Paediatric congenital malformation-dysmorphism-tumour syndrome", "Tumour predisposition - childhood onset", "R359" ], "stats": { "number_of_genes": 121, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Cancer Germline Virtual", "slug": "gms-cancer-germline-virtual", "description": "This is a panel used for WGS germline analysis for the GMS." }, { "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": [ "hClC-Kb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2027", "gene_name": "chloride voltage-gated channel Kb", "omim_gene": [ "602023" ], "alias_name": null, "gene_symbol": "CLCNKB", "hgnc_symbol": "CLCNKB", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:16370272-16383803", "ensembl_id": "ENSG00000184908" } }, "GRch38": { "90": { "location": "1:16043736-16057308", "ensembl_id": "ENSG00000184908" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "CLCNKB", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "28018459", "23550235" ], "evidence": [ "Expert Review Green", "Expert", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Bartter syndrome, type 3, OMIM:607364", "Bartter disease type 3, MONDO:0011822", "Bartter syndrome, type 4b, digenic, OMIM:613090", "Bartter disease type 4B, MONDO:0000909" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [ "monogenic-polygenic", "Q3_23_MOI" ], "panel": { "id": 149, "hash_id": "553f94d5bb5a1616e5ed45a5", "name": "Nephrocalcinosis or nephrolithiasis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "Disorders of function", "status": "public", "version": "4.13", "version_created": "2024-02-13T16:40:27.008021Z", "relevant_disorders": [ "Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)", "Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)", "R256" ], "stats": { "number_of_genes": 51, "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": [ "Kop", "HAI-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11247", "gene_name": "serine peptidase inhibitor, Kunitz type 2", "omim_gene": [ "605124" ], "alias_name": [ "placental bikunin" ], "gene_symbol": "SPINT2", "hgnc_symbol": "SPINT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38734675-38783254", "ensembl_id": "ENSG00000167642" } }, "GRch38": { "90": { "location": "19:38244035-38292614", "ensembl_id": "ENSG00000167642" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "SPINT2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24142340", "19185281", "17786112" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Polydactyly", "Diarrhea 3, secretory sodium, congenital, syndromic, 270420", "hexadactyly", "congenital sodium diarrhea with additional syndromic features" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "watchlist" ], "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": [ "CDHF3", "DSC", "DSC1", "DSC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3037", "gene_name": "desmocollin 3", "omim_gene": [ "600271" ], "alias_name": null, "gene_symbol": "DSC3", "hgnc_symbol": "DSC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:28569974-28622781", "ensembl_id": "ENSG00000134762" } }, "GRch38": { "90": { "location": "18:30990008-31042815", "ensembl_id": "ENSG00000134762" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19765682" ], "evidence": [ "Expert Review Red" ], "phenotypes": [ "hypotrichosis and recurrent skin vesicles disorder, 613102", "HRSV", "?Hypotrichosis and recurrent skin vesicles, 613102" ], "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": [ "BHD", "MGC17998", "MGC23445" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27310", "gene_name": "folliculin", "omim_gene": [ "607273" ], "alias_name": null, "gene_symbol": "FLCN", "hgnc_symbol": "FLCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:17115526-17140502", "ensembl_id": "ENSG00000154803" } }, "GRch38": { "90": { "location": "17:17212212-17237188", "ensembl_id": "ENSG00000154803" } } }, "hgnc_date_symbol_changed": "2004-08-05" }, "entity_type": "gene", "entity_name": "FLCN", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "27899189" ], "evidence": [ "Expert Review Green", "Expert List", "UKGTN" ], "phenotypes": [ "Birt-Hogg-Dube syndrome, OMIM:135150", "Renal carcinoma, MONDO:0005206" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 521, "hash_id": null, "name": "Inherited renal cancer", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.27", "version_created": "2024-01-09T11:32:26.291388Z", "relevant_disorders": [ "R224" ], "stats": { "number_of_genes": 18, "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": [ "LGMD2M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3622", "gene_name": "fukutin", "omim_gene": [ "607440" ], "alias_name": null, "gene_symbol": "FKTN", "hgnc_symbol": "FKTN", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "9:108320411-108403399", "ensembl_id": "ENSG00000106692" } }, "GRch38": { "90": { "location": "9:105558130-105641118", "ensembl_id": "ENSG00000106692" } } }, "hgnc_date_symbol_changed": "2007-11-21" }, "entity_type": "gene", "entity_name": "FKTN", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "27421908" ], "evidence": [ "Expert Review Green", "UKGTN", "Radboud University Medical Center, Nijmegen", "Literature", "Illumina TruGenome Clinical Sequencing Services", "Emory Genetics Laboratory" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800", "Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152", "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588", "Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": [ "XAP101", "dyskerin", "NAP57", "NOLA4", "Cbf5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2890", "gene_name": "dyskerin pseudouridine synthase 1", "omim_gene": [ "300126" ], "alias_name": [ "H/ACA ribonucleoprotein complex subunit 4" ], "gene_symbol": "DKC1", "hgnc_symbol": "DKC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153991031-154005964", "ensembl_id": "ENSG00000130826" } }, "GRch38": { "90": { "location": "X:154762742-154777689", "ensembl_id": "ENSG00000130826" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "DKC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Emory Genetics Laboratory", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Dyskeratosis congenita, X-linked (305000)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 209, "hash_id": "58c8066b8f6203413360f1cf", "name": "Ductal plate malformation", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.29", "version_created": "2024-04-09T15:06:28.792393Z", "relevant_disorders": [ "Ductal plate malformation (DPM)", "Polycystic liver disease" ], "stats": { "number_of_genes": 151, "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": [ "GP75", "CATB", "TRP", "b-PROTEIN", "OCA3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12450", "gene_name": "tyrosinase related protein 1", "omim_gene": [ "115501" ], "alias_name": null, "gene_symbol": "TYRP1", "hgnc_symbol": "TYRP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:12685439-12710290", "ensembl_id": "ENSG00000107165" } }, "GRch38": { "90": { "location": "9:12685439-12710290", "ensembl_id": "ENSG00000107165" } } }, "hgnc_date_symbol_changed": "1991-09-04" }, "entity_type": "gene", "entity_name": "TYRP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Albinism, oculocutaneous, type III", "Oculocutaneous Albinism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 511, "hash_id": null, "name": "Albinism or congenital nystagmus", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.5", "version_created": "2024-03-20T12:11:01.549933Z", "relevant_disorders": [ "R39" ], "stats": { "number_of_genes": 48, "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:11943", "gene_name": "troponin C1, slow skeletal and cardiac type", "omim_gene": [ "191040" ], "alias_name": null, "gene_symbol": "TNNC1", "hgnc_symbol": "TNNC1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "3:52485118-52488086", "ensembl_id": "ENSG00000114854" } }, "GRch38": { "90": { "location": "3:52451102-52454070", "ensembl_id": "ENSG00000114854" } } }, "hgnc_date_symbol_changed": "1989-12-11" }, "entity_type": "gene", "entity_name": "TNNC1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "27532257", "20186049" ], "evidence": [ "South West GLH", "London South GLH", "North West GLH", "Expert Review Green", "UKGTN", "Expert list", "Emory Genetics Laboratory", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "Cardiomyopathy, dilated, 1Z", "Cardiomyopathy, dilated, 1Z (611879)", "Cardiomyopathy, hypertrophic, 13 (613243)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "IL18BPa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5987", "gene_name": "interleukin 18 binding protein", "omim_gene": [ "604113" ], "alias_name": [ "MC51L-53L-54L homolog gene product" ], "gene_symbol": "IL18BP", "hgnc_symbol": "IL18BP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71709587-71716761", "ensembl_id": "ENSG00000137496" } }, "GRch38": { "90": { "location": "11:71998541-72005715", "ensembl_id": "ENSG00000137496" } } }, "hgnc_date_symbol_changed": "1999-05-21" }, "entity_type": "gene", "entity_name": "IL18BP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31213488", "31953710" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "{?Hepatitis, fulminant viral, susceptibility to}\t618549" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 398, "hash_id": null, "name": "Primary immunodeficiency or monogenic inflammatory bowel disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.202", "version_created": "2024-04-24T16:30:20.031169Z", "relevant_disorders": [ "Primary immunodeficiency disorders", "A- or hypo-gammaglobulinaemia", "Congenital neutropaenia", "Agranulocytosis", "Combined B and T cell defect", "Inherited complement deficiency", "SCID", "Primary immune disorder", "Primary immunodeficiency", "A-gammaglobulinaemia", "Agammaglobulinaemia", "hypo-gammaglobulinaemia", "hypogammaglobulinemia", "immune deficiency syndromes", "Severe combined immunodeficiency", "Congenital neutopenia", "Familial haemophagocytic lymphohistiocytic disorders", "Familial hemophagocytic lymphohistiocytic disorders", "PID", "Sepsis", "Disseminated non-tuberculous mycobacterial infection", "Primary immunodeficiency", "R15" ], "stats": { "number_of_genes": 560, "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": [ "P5CS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9722", "gene_name": "aldehyde dehydrogenase 18 family member A1", "omim_gene": [ "138250" ], "alias_name": null, "gene_symbol": "ALDH18A1", "hgnc_symbol": "ALDH18A1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "10:97365696-97416463", "ensembl_id": "ENSG00000059573" } }, "GRch38": { "90": { "location": "10:95605929-95656706", "ensembl_id": "ENSG00000059573" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "ALDH18A1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "18388779" ], "evidence": [ "Expert Review Green", "GDL Corneal Abnormalities panel" ], "phenotypes": [ "cutis laxa, corneal clouding, and mental retardation", "Cutis laxa, autosomal dominant 3 \t616603", "Cutis laxa, autosomal recessive, type IIIA \t219150" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": "553f979ebb5a1616e5ed45f6", "name": "Corneal abnormalities", "disease_group": "Ophthalmological disorders", "disease_sub_group": "Anterior segment abnormalities", "status": "public", "version": "1.13", "version_created": "2024-01-07T20:09:15.005884Z", "relevant_disorders": [ "Corneal abnormalities", "Corneal dystrophy" ], "stats": { "number_of_genes": 43, "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": [ "BPTP3", "SH-PTP2", "SHP-2", "PTP2C", "SHP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9644", "gene_name": "protein tyrosine phosphatase, non-receptor type 11", "omim_gene": [ "176876" ], "alias_name": null, "gene_symbol": "PTPN11", "hgnc_symbol": "PTPN11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:112856155-112947717", "ensembl_id": "ENSG00000179295" } }, "GRch38": { "90": { "location": "12:112418351-112509913", "ensembl_id": "ENSG00000179295" } } }, "hgnc_date_symbol_changed": "1993-03-03" }, "entity_type": "gene", "entity_name": "PTPN11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "SFARI" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 657, "hash_id": null, "name": "Autism", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.36", "version_created": "2023-08-24T11:18:56.826577Z", "relevant_disorders": [], "stats": { "number_of_genes": 735, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1385" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15465", "gene_name": "gephyrin", "omim_gene": [ "603930" ], "alias_name": null, "gene_symbol": "GPHN", "hgnc_symbol": "GPHN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:66974125-67648520", "ensembl_id": "ENSG00000171723" } }, "GRch38": { "90": { "location": "14:66507407-67181803", "ensembl_id": "ENSG00000171723" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "GPHN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "SFARI" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 657, "hash_id": null, "name": "Autism", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.36", "version_created": "2023-08-24T11:18:56.826577Z", "relevant_disorders": [], "stats": { "number_of_genes": 735, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1780" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29634", "gene_name": "multiple EGF like domains 10", "omim_gene": [ "612453" ], "alias_name": null, "gene_symbol": "MEGF10", "hgnc_symbol": "MEGF10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:126626523-126801429", "ensembl_id": "ENSG00000145794" } }, "GRch38": { "90": { "location": "5:127290831-127465737", "ensembl_id": "ENSG00000145794" } } }, "hgnc_date_symbol_changed": "2006-03-31" }, "entity_type": "gene", "entity_name": "MEGF10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "SFARI" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 657, "hash_id": null, "name": "Autism", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.36", "version_created": "2023-08-24T11:18:56.826577Z", "relevant_disorders": [], "stats": { "number_of_genes": 735, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "B7-H3", "B7H3", "B7RP-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19137", "gene_name": "CD276 molecule", "omim_gene": [ "605715" ], "alias_name": null, "gene_symbol": "CD276", "hgnc_symbol": "CD276", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:73976307-74006859", "ensembl_id": "ENSG00000103855" } }, "GRch38": { "90": { "location": "15:73683966-73714518", "ensembl_id": "ENSG00000103855" } } }, "hgnc_date_symbol_changed": "2005-03-04" }, "entity_type": "gene", "entity_name": "CD276", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "SFARI" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 657, "hash_id": null, "name": "Autism", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "0.36", "version_created": "2023-08-24T11:18:56.826577Z", "relevant_disorders": [], "stats": { "number_of_genes": 735, "number_of_strs": 0, "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:6600", "gene_name": "DNA ligase 3", "omim_gene": [ "600940" ], "alias_name": null, "gene_symbol": "LIG3", "hgnc_symbol": "LIG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:33307513-33332083", "ensembl_id": "ENSG00000005156" } }, "GRch38": { "90": { "location": "17:34980494-35009743", "ensembl_id": "ENSG00000005156" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "LIG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33855352" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "gut dysmotility", "spasticity", "ataxia", "repetitive behaviours", "neurogenic bladder", "macular degeneration", "leukoencephalopathy", "cerebellar atrophy", "mitochondrial DNA depletion" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 42, "hash_id": "568f920822c1fc1c79ca177a", "name": "Inherited white matter disorders", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "White matter disorders", "status": "public", "version": "1.180", "version_created": "2024-04-09T15:06:23.410873Z", "relevant_disorders": [ "Leukodystrophy - adult onset" ], "stats": { "number_of_genes": 174, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": [] }, { "gene_data": { "alias": [ "CPRP1", "KIAA0214", "MARF", "CMT2A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16877", "gene_name": "mitofusin 2", "omim_gene": [ "608507" ], "alias_name": null, "gene_symbol": "MFN2", "hgnc_symbol": "MFN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:12040238-12073571", "ensembl_id": "ENSG00000116688" } }, "GRch38": { "90": { "location": "1:11980181-12013514", "ensembl_id": "ENSG00000116688" } } }, "hgnc_date_symbol_changed": "2003-02-25" }, "entity_type": "gene", "entity_name": "MFN2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "26085578", "28414270", "30158064" ], "evidence": [ "Expert Review Amber", "NHS GMS", "Expert list" ], "phenotypes": [ "Lipomatosis, multiple symmetric, with or without peripheral neuropathy, OMIM:151800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "Q3_23_promote_green", "Q3_23_NHS_review" ], "panel": { "id": 546, "hash_id": null, "name": "Lipodystrophy - childhood onset", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.50", "version_created": "2023-10-26T01:09:51.246775Z", "relevant_disorders": [ "R158" ], "stats": { "number_of_genes": 32, "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": [ "p51", "SHFM4", "EEC3", "p63", "p73L", "OFC8", "KET", "p73H", "NBP", "p53CP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15979", "gene_name": "tumor protein p63", "omim_gene": [ "603273" ], "alias_name": null, "gene_symbol": "TP63", "hgnc_symbol": "TP63", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:189349205-189615068", "ensembl_id": "ENSG00000073282" } }, "GRch38": { "90": { "location": "3:189631416-189897279", "ensembl_id": "ENSG00000073282" } } }, "hgnc_date_symbol_changed": "2002-04-18" }, "entity_type": "gene", "entity_name": "TP63", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "18792980" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Split hand foot malformation with whorl-like pigmentary pattern" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "watchlist", "somatic" ], "panel": { "id": 564, "hash_id": null, "name": "Mosaic skin disorders - deep sequencing", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "2.47", "version_created": "2024-04-02T15:41:50.209074Z", "relevant_disorders": [ "R327" ], "stats": { "number_of_genes": 57, "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": [ "RIBB", "ROC1", "MGC125864", "MGC125865" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10023", "gene_name": "Ras like without CAAX 1", "omim_gene": [ "609591" ], "alias_name": [ "Ric-like, expressed in many tissues", "GTP-binding protein Roc1" ], "gene_symbol": "RIT1", "hgnc_symbol": "RIT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155867599-155881195", "ensembl_id": "ENSG00000143622" } }, "GRch38": { "90": { "location": "1:155897808-155911404", "ensembl_id": "ENSG00000143622" } } }, "hgnc_date_symbol_changed": "2002-09-13" }, "entity_type": "gene", "entity_name": "RIT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Noonan syndrome 8 615355" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 245, "hash_id": "595ce30f8f62036352471f39", "name": "Adult solid tumours cancer susceptibility", "disease_group": "Cancer Programme", "disease_sub_group": "Pertinent cancer susceptibility gene panel", "status": "public", "version": "2.29", "version_created": "2024-01-24T18:24:52.770842Z", "relevant_disorders": [ "Carcinoma of unknown primary", "Other", "Adult solid tumours pertinent cancer susceptibility" ], "stats": { "number_of_genes": 105, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline 100K", "slug": "cancer-germline-100k", "description": "Cancer Germline 100K" }, { "name": "GMS Cancer Germline Virtual", "slug": "gms-cancer-germline-virtual", "description": "This is a panel used for WGS germline analysis for the GMS." }, { "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": [ "CDS1", "CHK2", "HuCds1", "PP1425", "bA444G7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16627", "gene_name": "checkpoint kinase 2", "omim_gene": [ "604373" ], "alias_name": null, "gene_symbol": "CHEK2", "hgnc_symbol": "CHEK2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "22:29083731-29138410", "ensembl_id": "ENSG00000183765" } }, "GRch38": { "90": { "location": "22:28687743-28742422", "ensembl_id": "ENSG00000183765" } } }, "hgnc_date_symbol_changed": "2001-09-27" }, "entity_type": "gene", "entity_name": "CHEK2", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Amber", "Expert list" ], "phenotypes": [ "Breast cancer" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 245, "hash_id": "595ce30f8f62036352471f39", "name": "Adult solid tumours cancer susceptibility", "disease_group": "Cancer Programme", "disease_sub_group": "Pertinent cancer susceptibility gene panel", "status": "public", "version": "2.29", "version_created": "2024-01-24T18:24:52.770842Z", "relevant_disorders": [ "Carcinoma of unknown primary", "Other", "Adult solid tumours pertinent cancer susceptibility" ], "stats": { "number_of_genes": 105, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline 100K", "slug": "cancer-germline-100k", "description": "Cancer Germline 100K" }, { "name": "GMS Cancer Germline Virtual", "slug": "gms-cancer-germline-virtual", "description": "This is a panel used for WGS germline analysis for the GMS." }, { "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": [ "CI-30" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7710", "gene_name": "NADH:ubiquinone oxidoreductase core subunit S3", "omim_gene": [ "603846" ], "alias_name": [ "complex I 30kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial" ], "gene_symbol": "NDUFS3", "hgnc_symbol": "NDUFS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47586888-47606114", "ensembl_id": "ENSG00000213619" } }, "GRch38": { "90": { "location": "11:47565336-47584562", "ensembl_id": "ENSG00000213619" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "NDUFS3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14729820" ], "evidence": [ "Expert Review Red", "London North GLH" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 8, 618230" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 186, "hash_id": "553f95e2bb5a1616e5ed45c8", "name": "Optic neuropathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "Posterior segment abnormalities", "status": "public", "version": "4.30", "version_created": "2024-04-12T23:02:01.271751Z", "relevant_disorders": [ "Inherited optic neuropathies", "R41" ], "stats": { "number_of_genes": 75, "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": [ "iGNT", "iGAT", "iGnT", "BETA3GNTI", "B3GN-T1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15685", "gene_name": "beta-1,4-glucuronyltransferase 1", "omim_gene": [ "605517" ], "alias_name": [ "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase" ], "gene_symbol": "B4GAT1", "hgnc_symbol": "B4GAT1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "11:66112843-66115163", "ensembl_id": "ENSG00000174684" } }, "GRch38": { "90": { "location": "11:66345372-66347692", "ensembl_id": "ENSG00000174684" } } }, "hgnc_date_symbol_changed": "2014-12-17" }, "entity_type": "gene", "entity_name": "B4GAT1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "23877401", "23359570" ], "evidence": [ "NHS GMS", "London South GLH", "Expert Review Green", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": [ "HD4ST", "D4ST-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24464", "gene_name": "carbohydrate sulfotransferase 14", "omim_gene": [ "608429" ], "alias_name": null, "gene_symbol": "CHST14", "hgnc_symbol": "CHST14", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "15:40763160-40765353", "ensembl_id": "ENSG00000169105" } }, "GRch38": { "90": { "location": "15:40470998-40474571", "ensembl_id": "ENSG00000169105" } } }, "hgnc_date_symbol_changed": "2007-03-27" }, "entity_type": "gene", "entity_name": "CHST14", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "20004762, 20842734," ], "evidence": [ "Expert Review Green", "UKGTN", "Radboud University Medical Center, Nijmegen", "Emory Genetics Laboratory", "Expert list" ], "phenotypes": [ "Ehlers-Danlos syndrome, musculocontractural type 1 601776" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": "55b75d5b22c1fc05fd2345c9", "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "5.31", "version_created": "2024-04-25T09:51:19.458728Z", "relevant_disorders": [ "Arthrogrythsis", "R83" ], "stats": { "number_of_genes": 298, "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 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": [ "FLJ13110", "SPG31", "Yip2a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25786", "gene_name": "receptor accessory protein 1", "omim_gene": [ "609139" ], "alias_name": [ "receptor expression enhancing protein 1" ], "gene_symbol": "REEP1", "hgnc_symbol": "REEP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:86441116-86565206", "ensembl_id": "ENSG00000068615" } }, "GRch38": { "90": { "location": "2:86213993-86338083", "ensembl_id": "ENSG00000068615" } } }, "hgnc_date_symbol_changed": "2006-02-07" }, "entity_type": "gene", "entity_name": "REEP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16826527", "18321925" ], "evidence": [ "Yorkshire and North East GLH", "NHS GMS", "London North GLH", "Illumina TruGenome Clinical Sequencing Services", "Expert Review Green", "Expert list", "UKGTN", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Spastic paraplegia 31, autosomal dominant, 610250" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 568, "hash_id": null, "name": "Childhood onset hereditary spastic paraplegia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.43", "version_created": "2024-04-23T13:37:44.258973Z", "relevant_disorders": [ "Hereditary spastic paraplegia - childhood onset", "R61" ], "stats": { "number_of_genes": 149, "number_of_strs": 10, "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "MDA-5", "Hlcd", "MDA5", "IDDM19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18873", "gene_name": "interferon induced with helicase C domain 1", "omim_gene": [ "606951" ], "alias_name": [ "helicard", "melanoma differentiation-associated gene 5" ], "gene_symbol": "IFIH1", "hgnc_symbol": "IFIH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:163123589-163175213", "ensembl_id": "ENSG00000115267" } }, "GRch38": { "90": { "location": "2:162267079-162318703", "ensembl_id": "ENSG00000115267" } } }, "hgnc_date_symbol_changed": "2004-06-25" }, "entity_type": "gene", "entity_name": "IFIH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "25620204", "28319323" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Singleton-Merten syndrome 1, OMIM:182250" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": [ "FBLP-1", "CAL", "migfilin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24686", "gene_name": "filamin binding LIM protein 1", "omim_gene": [ "607747" ], "alias_name": null, "gene_symbol": "FBLIM1", "hgnc_symbol": "FBLIM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:16083102-16113089", "ensembl_id": "ENSG00000162458" } }, "GRch38": { "90": { "location": "1:15756607-15786594", "ensembl_id": "ENSG00000162458" } } }, "hgnc_date_symbol_changed": "2005-06-15" }, "entity_type": "gene", "entity_name": "FBLIM1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29912021" ], "evidence": [ "NHS GMS" ], "phenotypes": [ "Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628" ], "mode_of_inheritance": "", "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": [ "DKFZP434C245" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24488", "gene_name": "POC1 centriolar protein A", "omim_gene": [ "614783" ], "alias_name": null, "gene_symbol": "POC1A", "hgnc_symbol": "POC1A", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "3:52109269-52188706", "ensembl_id": "ENSG00000164087" } }, "GRch38": { "90": { "location": "3:52075253-52154690", "ensembl_id": "ENSG00000164087" } } }, "hgnc_date_symbol_changed": "2010-03-26" }, "entity_type": "gene", "entity_name": "POC1A", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "26374189", "26162852", "26336158" ], "evidence": [ "NHS GMS", "Expert Review Green", "Expert list", "", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis\t614813", "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813" ], "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": [ "KIAA1577" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29316", "gene_name": "zinc finger SWIM-type containing 6", "omim_gene": [ "615951" ], "alias_name": null, "gene_symbol": "ZSWIM6", "hgnc_symbol": "ZSWIM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60628100-60841997", "ensembl_id": "ENSG00000130449" } }, "GRch38": { "90": { "location": "5:61332273-61546170", "ensembl_id": "ENSG00000130449" } } }, "hgnc_date_symbol_changed": "2003-12-17" }, "entity_type": "gene", "entity_name": "ZSWIM6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25105228" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Acromelic frontonasal dysostosis 603671" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 309, "hash_id": "5693952f22c1fc251660fb1e", "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "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": [] }, { "gene_data": { "alias": [ "ADTD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:568", "gene_name": "adaptor related protein complex 3 delta 1 subunit", "omim_gene": [ "607246" ], "alias_name": null, "gene_symbol": "AP3D1", "hgnc_symbol": "AP3D1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:2100988-2164464", "ensembl_id": "ENSG00000065000" } }, "GRch38": { "90": { "location": "19:2100988-2164465", "ensembl_id": "ENSG00000065000" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP3D1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28936583", "26744459" ], "evidence": [ "Expert Review Green", "North West GLH", "Yorkshire and North East GLH", "London South GLH", "NHS GMS", "Wessex and West Midlands GLH" ], "phenotypes": [ "617050 ?Hermansky-Pudlak syndrome 10" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 545, "hash_id": null, "name": "Bleeding and platelet disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.10", "version_created": "2024-04-24T16:33:46.214396Z", "relevant_disorders": [ "R90" ], "stats": { "number_of_genes": 116, "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": [ "RAMP", "FIM", "MYM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12989", "gene_name": "zinc finger MYM-type containing 2", "omim_gene": [ "602221" ], "alias_name": null, "gene_symbol": "ZMYM2", "hgnc_symbol": "ZMYM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:20532810-20665968", "ensembl_id": "ENSG00000121741" } }, "GRch38": { "90": { "location": "13:19958670-20091829", "ensembl_id": "ENSG00000121741" } } }, "hgnc_date_symbol_changed": "2006-07-13" }, "entity_type": "gene", "entity_name": "ZMYM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32891193" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 234, "hash_id": "553f9696bb5a1616e5ed45d1", "name": "CAKUT", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "Structural renal and urinary tract disease", "status": "public", "version": "1.177", "version_created": "2024-04-26T11:21:13.054947Z", "relevant_disorders": [ "Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ32642", "HCRP1", "SPG53" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24928", "gene_name": "VPS37A, ESCRT-I subunit", "omim_gene": [ "609927" ], "alias_name": [ "hepatocellular carcinoma related protein 1" ], "gene_symbol": "VPS37A", "hgnc_symbol": "VPS37A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:17104080-17159936", "ensembl_id": "ENSG00000155975" } }, "GRch38": { "90": { "location": "8:17246571-17302427", "ensembl_id": "ENSG00000155975" } } }, "hgnc_date_symbol_changed": "2005-09-08" }, "entity_type": "gene", "entity_name": "VPS37A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "Zivony-Elboum et al. (2012)" ], "evidence": [ "Expert Review Red" ], "phenotypes": [ "Dystonia", "Spastic paraplegia 53, autosomal recessive" ], "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": [], "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": "2017-11-03T00:00:00", "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": "Complete", "mode_of_pathogenicity": "", "publications": [ "27604308", "10739752", "11431706", "20170900" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Menkes disease\t309400", "Occipital horn syndrome\t304150", "Spinal muscular atrophy, distal, X-linked 3\t300489" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "treatable" ], "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": [ "ABL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7467", "gene_name": "microsomal triglyceride transfer protein", "omim_gene": [ "157147" ], "alias_name": null, "gene_symbol": "MTTP", "hgnc_symbol": "MTTP", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "4:100484918-100545156", "ensembl_id": "ENSG00000138823" } }, "GRch38": { "90": { "location": "4:99563761-99623999", "ensembl_id": "ENSG00000138823" } } }, "hgnc_date_symbol_changed": "2005-11-04" }, "entity_type": "gene", "entity_name": "MTTP", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "27604308" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services", "Literature" ], "phenotypes": [ "Familial abetalipoproteinaemia (Inherited hypolipidaemias)", "Abetalipoproteinemia, 200100", "(ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": [ "NOT56L", "Not56", "CDGS4", "D16Ertd36e" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23056", "gene_name": "ALG3, alpha-1,3- mannosyltransferase", "omim_gene": [ "608750" ], "alias_name": [ "carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase" ], "gene_symbol": "ALG3", "hgnc_symbol": "ALG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:183960089-183967336", "ensembl_id": "ENSG00000214160" } }, "GRch38": { "90": { "location": "3:184242301-184249548", "ensembl_id": "ENSG00000214160" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15108280", "19862844" ], "evidence": [ "London North GLH", "NHS GMS", "Expert Review Green" ], "phenotypes": [ "Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)", "Congenital disorder of glycosylation, type Id 601110", "Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation)", "ALG3-CDG (Disorders of protein N-glycosylation)" ], "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": [ "NOV", "QM", "DXS648E", "DXS648", "FLJ23544", "L10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10298", "gene_name": "ribosomal protein L10", "omim_gene": [ "312173" ], "alias_name": null, "gene_symbol": "RPL10", "hgnc_symbol": "RPL10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153618315-153637504", "ensembl_id": "ENSG00000147403" } }, "GRch38": { "90": { "location": "X:154389955-154409168", "ensembl_id": "ENSG00000147403" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "RPL10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25316788" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Mental retardation, X-linked, syndromic, 35" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:28984", "gene_name": "WASH complex subunit 5", "omim_gene": [ "610657" ], "alias_name": [ "strumpellin" ], "gene_symbol": "WASHC5", "hgnc_symbol": "WASHC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:126036502-126104082", "ensembl_id": "ENSG00000164961" } }, "GRch38": { "90": { "location": "8:125024260-125091840", "ensembl_id": "ENSG00000164961" } } }, "hgnc_date_symbol_changed": "2016-10-14" }, "entity_type": "gene", "entity_name": "WASHC5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "PAGE Additional Gene List" ], "phenotypes": [ "Spastic paraplegia 8, autosomal dominant 603563", "Ritscher-Schinzel syndrome 1 220210" ], "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": [ "dJ111C20.1", "RSP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21054", "gene_name": "radial spoke head 3 homolog", "omim_gene": [ "615876" ], "alias_name": null, "gene_symbol": "RSPH3", "hgnc_symbol": "RSPH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:159393903-159421219", "ensembl_id": "ENSG00000130363" } }, "GRch38": { "90": { "location": "6:158972871-159000187", "ensembl_id": "ENSG00000130363" } } }, "hgnc_date_symbol_changed": "2007-06-26" }, "entity_type": "gene", "entity_name": "RSPH3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30166424" ], "evidence": [ "Expert Review Red", "PAGE DD-Gene2Phenotype" ], "phenotypes": [ "PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS" ], "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": [ "KIAA0902", "CNK2", "KSR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19701", "gene_name": "connector enhancer of kinase suppressor of Ras 2", "omim_gene": [ "300724" ], "alias_name": null, "gene_symbol": "CNKSR2", "hgnc_symbol": "CNKSR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:21392536-21672813", "ensembl_id": "ENSG00000149970" } }, "GRch38": { "90": { "location": "X:21374418-21654695", "ensembl_id": "ENSG00000149970" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "CNKSR2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "PAGE DD-Gene2Phenotype" ], "phenotypes": [ "INTELLECTUAL DISABILITY WITH EPILEPSY" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2918", "gene_name": "distal-less homeobox 5", "omim_gene": [ "600028" ], "alias_name": null, "gene_symbol": "DLX5", "hgnc_symbol": "DLX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:96649704-96654409", "ensembl_id": "ENSG00000105880" } }, "GRch38": { "90": { "location": "7:97020392-97025097", "ensembl_id": "ENSG00000105880" } } }, "hgnc_date_symbol_changed": "1994-05-24" }, "entity_type": "gene", "entity_name": "DLX5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600", "Split-hand/foot malformation 1, 183600" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 478, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "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": [ "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": [ "GTL2", "NCRNA00023", "LINC00023", "onco-lncRNA-83" ], "biotype": "lincRNA", "hgnc_id": "HGNC:14575", "gene_name": "maternally expressed 3 (non-protein coding)", "omim_gene": [ "605636" ], "alias_name": [ "non-protein coding RNA 23", "long intergenic non-protein coding RNA 23" ], "gene_symbol": "MEG3", "hgnc_symbol": "MEG3", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "14:101245747-101327368", "ensembl_id": "ENSG00000214548" } }, "GRch38": { "90": { "location": "14:100779410-100861031", "ensembl_id": "ENSG00000214548" } } }, "hgnc_date_symbol_changed": "2001-02-08" }, "entity_type": "gene", "entity_name": "MEG3", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [ "locus-type-rna-long-non-coding" ], "panel": { "id": 79, "hash_id": "5541ef3dbb5a160c33b964e0", "name": "Paediatric motor neuronopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Motor and Sensory Disorders of the PNS", "status": "public", "version": "3.6", "version_created": "2023-10-25T21:32:08.164419Z", "relevant_disorders": [], "stats": { "number_of_genes": 39, "number_of_strs": 2, "number_of_regions": 5 }, "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": [ "CSBP", "TUNP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5044", "gene_name": "heterogeneous nuclear ribonucleoprotein K", "omim_gene": [ "600712" ], "alias_name": [ "transformation upregulated nuclear protein" ], "gene_symbol": "HNRNPK", "hgnc_symbol": "HNRNPK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:86582998-86595569", "ensembl_id": "ENSG00000165119" } }, "GRch38": { "90": { "location": "9:83968083-83980616", "ensembl_id": "ENSG00000165119" } } }, "hgnc_date_symbol_changed": "2008-04-18" }, "entity_type": "gene", "entity_name": "HNRNPK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30998304", "29904177" ], "evidence": [ "Expert Review Green", "DD-Gene2Phenotype" ], "phenotypes": [ "Au-Kline Syndrome" ], "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": [ "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": [ "17273969", "28548707", "24124034", "28102598", "31185419", "22106055", "26358754", "20635401", "28677859", "26354354", "16604071", "31098032", "28166369", "26386245", "26752331" ], "evidence": [ "DD-Gene2Phenotype", "Expert Review Green" ], "phenotypes": [ "CORNELIA DE LANGE SYNDROME TYPE 2 300590", "EPILEPTIC ENCEPHALOPATHY" ], "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": 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": [ "YAP65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16262", "gene_name": "Yes associated protein 1", "omim_gene": [ "606608" ], "alias_name": null, "gene_symbol": "YAP1", "hgnc_symbol": "YAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:101981192-102104154", "ensembl_id": "ENSG00000137693" } }, "GRch38": { "90": { "location": "11:102110461-102233423", "ensembl_id": "ENSG00000137693" } } }, "hgnc_date_symbol_changed": "2001-07-17" }, "entity_type": "gene", "entity_name": "YAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24462371", "27267789" ], "evidence": [ "Expert Review Green", "DD-Gene2Phenotype" ], "phenotypes": [ "COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433" ], "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": [ "FLJ40908" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20842", "gene_name": "forkhead box P4", "omim_gene": [ "608924" ], "alias_name": null, "gene_symbol": "FOXP4", "hgnc_symbol": "FOXP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:41514164-41570122", "ensembl_id": "ENSG00000137166" } }, "GRch38": { "90": { "location": "6:41546426-41602384", "ensembl_id": "ENSG00000137166" } } }, "hgnc_date_symbol_changed": "2003-05-28" }, "entity_type": "gene", "entity_name": "FOXP4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33110267" ], "evidence": [ "Expert Review Red", "DD-Gene2Phenotype" ], "phenotypes": [ "FOXP4-related Developmental Disorder" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2394", "gene_name": "crystallin beta A1", "omim_gene": [ "123610" ], "alias_name": [ "eye lens structural protein" ], "gene_symbol": "CRYBA1", "hgnc_symbol": "CRYBA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:27573881-27581512", "ensembl_id": "ENSG00000108255" } }, "GRch38": { "90": { "location": "17:29246863-29254494", "ensembl_id": "ENSG00000108255" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CRYBA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14598164" ], "evidence": [ "DD-Gene2Phenotype", "Expert Review Green" ], "phenotypes": [ "CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881" ], "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": [ "CMD1S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7577", "gene_name": "myosin heavy chain 7", "omim_gene": [ "160760" ], "alias_name": null, "gene_symbol": "MYH7", "hgnc_symbol": "MYH7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23881947-23904927", "ensembl_id": "ENSG00000092054" } }, "GRch38": { "90": { "location": "14:23412738-23435718", "ensembl_id": "ENSG00000092054" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MYH7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "South West GLH" ], "phenotypes": [ "Laing distal myopathy, OMIM:160500", "Laing early-onset distal myopathy, MONDO:0008050", "Scapuloperoneal syndrome, myopathic type, OMIM:181430", "MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409", "Cardiomyopathy, hypertrophic, 1, OMIM:192600", "Hypertrophic cardiomyopathy 1, MONDO:0008647", "Cardiomyopathy, dilated, 1S, OMIM:613426", "Dilated cardiomyopathy 1S, MONDO:0013262", "Myopathy, myosin storage, autosomal dominant, OMIM:608358", "Myopathy, myosin storage, autosomal dominant, MONDO:0012018", "Left ventricular noncompaction 5, OMIM:613426" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "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": [ "GRB1", "p85-ALPHA", "p85" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8979", "gene_name": "phosphoinositide-3-kinase regulatory subunit 1", "omim_gene": [ "171833" ], "alias_name": [ "phosphoinositide-3-kinase regulatory subunit alpha" ], "gene_symbol": "PIK3R1", "hgnc_symbol": "PIK3R1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:67511548-67597649", "ensembl_id": "ENSG00000145675" } }, "GRch38": { "90": { "location": "5:68215720-68301821", "ensembl_id": "ENSG00000145675" } } }, "hgnc_date_symbol_changed": "1992-12-08" }, "entity_type": "gene", "entity_name": "PIK3R1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "SHORT syndrome, OMIM:269880" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 473, "hash_id": null, "name": "Growth failure in early childhood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "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": [ "MTPOLB", "HP55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9180", "gene_name": "DNA polymerase gamma 2, accessory subunit", "omim_gene": [ "604983" ], "alias_name": null, "gene_symbol": "POLG2", "hgnc_symbol": "POLG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:62473902-62493154", "ensembl_id": "ENSG00000256525" } }, "GRch38": { "90": { "location": "17:64477785-64497036", "ensembl_id": "ENSG00000256525" } } }, "hgnc_date_symbol_changed": "1999-09-16" }, "entity_type": "gene", "entity_name": "POLG2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31286721", "27592148", "30157269", "21555342" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528", "Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131" ], "mode_of_inheritance": "BOTH monoallelic and 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": [ "hCG_1645727", "NEM6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:37227", "gene_name": "kelch repeat and BTB domain containing 13", "omim_gene": [ "613727" ], "alias_name": [ "nemaline myopathy type 6" ], "gene_symbol": "KBTBD13", "hgnc_symbol": "KBTBD13", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "15:65369154-65372276", "ensembl_id": "ENSG00000234438" } }, "GRch38": { "90": { "location": "15:65076816-65078192", "ensembl_id": "ENSG00000234438" } } }, "hgnc_date_symbol_changed": "2010-01-25" }, "entity_type": "gene", "entity_name": "KBTBD13", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "Other - please provide details in the comments ", "publications": [], "evidence": [ "Expert Review Red", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "Nemaline myopathy 6, autosomal dominant, 609273" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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": [ "H3.3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4764", "gene_name": "H3 histone family member 3A", "omim_gene": [ "601128" ], "alias_name": null, "gene_symbol": "H3F3A", "hgnc_symbol": "H3F3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:226249552-226259702", "ensembl_id": "ENSG00000163041" } }, "GRch38": { "90": { "location": "1:226061851-226072001", "ensembl_id": "ENSG00000163041" } } }, "hgnc_date_symbol_changed": "1989-12-11" }, "entity_type": "gene", "entity_name": "H3F3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31942419", "33268356", "33057194" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Developmental delay", "Intellectual disability", "Neurodegeneration", "Epilepsy", "Facial dysmorphism", "Congenital anomalies" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "new-gene-name" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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": [ "UGTREL7", "KIAA0260" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20800", "gene_name": "solute carrier family 35 member D1", "omim_gene": [ "610804" ], "alias_name": null, "gene_symbol": "SLC35D1", "hgnc_symbol": "SLC35D1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:67465015-67519782", "ensembl_id": "ENSG00000116704" } }, "GRch38": { "90": { "location": "1:66999332-67054099", "ensembl_id": "ENSG00000116704" } } }, "hgnc_date_symbol_changed": "2003-04-09" }, "entity_type": "gene", "entity_name": "SLC35D1", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "Schneckenbecken dysplasia, 269250" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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:361", "gene_name": "adenylate kinase 1", "omim_gene": [ "103000" ], "alias_name": null, "gene_symbol": "AK1", "hgnc_symbol": "AK1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "9:130628759-130640022", "ensembl_id": "ENSG00000106992" } }, "GRch38": { "90": { "location": "9:127866480-127877743", "ensembl_id": "ENSG00000106992" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "AK1", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Hemolytic anemia due to adenylate kinase deficiency, 612631" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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": [ "XCE", "DINE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3147", "gene_name": "endothelin converting enzyme like 1", "omim_gene": [ "605896" ], "alias_name": [ "damage induced neuronal endopeptidase" ], "gene_symbol": "ECEL1", "hgnc_symbol": "ECEL1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "2:233344537-233352538", "ensembl_id": "ENSG00000171551" } }, "GRch38": { "90": { "location": "2:232479827-232487828", "ensembl_id": "ENSG00000171551" } } }, "hgnc_date_symbol_changed": "1999-04-22" }, "entity_type": "gene", "entity_name": "ECEL1", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "Arthrogryposis, distal, type 5D, 615065" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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:654", "gene_name": "ADP ribosylation factor 3", "omim_gene": [ "103190" ], "alias_name": [ "small GTP binding protein" ], "gene_symbol": "ARF3", "hgnc_symbol": "ARF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49329506-49351334", "ensembl_id": "ENSG00000134287" } }, "GRch38": { "90": { "location": "12:48935723-48957551", "ensembl_id": "ENSG00000134287" } } }, "hgnc_date_symbol_changed": "1992-07-09" }, "entity_type": "gene", "entity_name": "ARF3", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "34346499", "36369169" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Global developmental delay", "Intellectual disability, MONDO:0001071", "Seizures", "Morphological abnormality of the central nervous system", "microcephaly, MONDO:0001149" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "Q4_23_promote_green" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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": [ "ASF", "SF2", "SRp30a", "SF2p33", "MGC5228" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10780", "gene_name": "serine and arginine rich splicing factor 1", "omim_gene": [ "600812" ], "alias_name": [ "splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1" ], "gene_symbol": "SRSF1", "hgnc_symbol": "SRSF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56080721-56084707", "ensembl_id": "ENSG00000136450" } }, "GRch38": { "90": { "location": "17:58003360-58007346", "ensembl_id": "ENSG00000136450" } } }, "hgnc_date_symbol_changed": "2010-06-22" }, "entity_type": "gene", "entity_name": "SRSF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37071997" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "Q4_23_promote_green" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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": [] }, { "gene_data": { "alias": [ "FLJ31228", "DKFZp434F195" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19946", "gene_name": "calmodulin regulated spectrin associated protein 1", "omim_gene": [ "613774" ], "alias_name": null, "gene_symbol": "CAMSAP1", "hgnc_symbol": "CAMSAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:138700333-138799074", "ensembl_id": "ENSG00000130559" } }, "GRch38": { "90": { "location": "9:135808487-135907228", "ensembl_id": "ENSG00000130559" } } }, "hgnc_date_symbol_changed": "2003-12-09" }, "entity_type": "gene", "entity_name": "CAMSAP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36283405" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "Q1_24_promote_green" ], "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": "5.550", "version_created": "2024-04-26T11:21:54.644103Z", "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": [] }, { "gene_data": { "alias": [ "TIM50L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23656", "gene_name": "translocase of inner mitochondrial membrane 50", "omim_gene": [ "607381" ], "alias_name": null, "gene_symbol": "TIMM50", "hgnc_symbol": "TIMM50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:39971052-39984422", "ensembl_id": "ENSG00000105197" } }, "GRch38": { "90": { "location": "19:39480412-39493785", "ensembl_id": "ENSG00000105197" } } }, "hgnc_date_symbol_changed": "2003-12-02" }, "entity_type": "gene", "entity_name": "TIMM50", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27573165" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "3-methylglutaconic aciduria, type IX 617698" ], "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": [ "MER5", "AOP-1", "SP-22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9354", "gene_name": "peroxiredoxin 3", "omim_gene": [ "604769" ], "alias_name": null, "gene_symbol": "PRDX3", "hgnc_symbol": "PRDX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:120927215-120938345", "ensembl_id": "ENSG00000165672" } }, "GRch38": { "90": { "location": "10:119167703-119178833", "ensembl_id": "ENSG00000165672" } } }, "hgnc_date_symbol_changed": "1999-08-12" }, "entity_type": "gene", "entity_name": "PRDX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33889951" ], "evidence": [ "Expert Review Green", "NHS GMS", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 32, OMIM:619862" ], "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": [ "R-Ras" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10447", "gene_name": "RAS related", "omim_gene": [ "165090" ], "alias_name": [ "Oncogene RRAS" ], "gene_symbol": "RRAS", "hgnc_symbol": "RRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50138549-50143458", "ensembl_id": "ENSG00000126458" } }, "GRch38": { "90": { "location": "19:49635292-49640201", "ensembl_id": "ENSG00000126458" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "RRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24705357", "32815881", "34935735" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "RRAS-related atypical Noonan syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 48, "hash_id": "564cbd3622c1fc10dcb42ac7", "name": "RASopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "RASopathies", "status": "public", "version": "1.81", "version_created": "2024-04-15T15:31:12.716809Z", "relevant_disorders": [ "Cardio-facio-cutaneous syndrome", "Costello syndrome", "LEOPARD syndrome", "Legius syndrome", "Noonan syndrome", "Noonan syndrome plus other features" ], "stats": { "number_of_genes": 25, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "bA348N5.3", "BBIP10", "BBS18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28093", "gene_name": "BBSome interacting protein 1", "omim_gene": [ "613605" ], "alias_name": null, "gene_symbol": "BBIP1", "hgnc_symbol": "BBIP1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "10:112658488-112679032", "ensembl_id": "ENSG00000214413" } }, "GRch38": { "90": { "location": "10:110898730-110919274", "ensembl_id": "ENSG00000214413" } } }, "hgnc_date_symbol_changed": "2010-12-09" }, "entity_type": "gene", "entity_name": "BBIP1", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "PMID: 24026985 - Scheidecker et al (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014 Feb", "51(2):132-6. - Report a novel homozygous nonsense mutation, c.173T>G, p.Leu58Ter. Het in father", "mother and sibling's samples not available for testing. Three functional assays confirm that this mutation has a major biological effect underlying the phenotype observed in the patient. PMID: 1908107 - publication describing function of the protein." ], "evidence": [ "NHS GMS", "Expert Review Red" ], "phenotypes": [ "Genetic Retinal Degeneration Conditions" ], "mode_of_inheritance": "", "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": [ "MDC9", "KIAA0021", "MCMP", "Mltng" ], "biotype": "protein_coding", "hgnc_id": "HGNC:216", "gene_name": "ADAM metallopeptidase domain 9", "omim_gene": [ "602713" ], "alias_name": [ "meltrin gamma" ], "gene_symbol": "ADAM9", "hgnc_symbol": "ADAM9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:38854388-38962663", "ensembl_id": "ENSG00000168615" } }, "GRch38": { "90": { "location": "8:38996869-39105144", "ensembl_id": "ENSG00000168615" } } }, "hgnc_date_symbol_changed": "1998-12-01" }, "entity_type": "gene", "entity_name": "ADAM9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25091951" ], "evidence": [ "NHS GMS", "Expert Review Red" ], "phenotypes": [ "Cone-rod dystrophy 9, 612775", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9006", "gene_name": "paired like homeodomain 3", "omim_gene": [ "602669" ], "alias_name": null, "gene_symbol": "PITX3", "hgnc_symbol": "PITX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:103989943-104001231", "ensembl_id": "ENSG00000107859" } }, "GRch38": { "90": { "location": "10:102230186-102241474", "ensembl_id": "ENSG00000107859" } } }, "hgnc_date_symbol_changed": "1998-06-04" }, "entity_type": "gene", "entity_name": "PITX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29405783", "9620774", "20033184" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Anterior segment mesenchymal dysgenesis, 107250", "Cataract 11, multiple types, 610623", "Eye Disorders" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6408", "gene_name": "MAF bZIP transcription factor B", "omim_gene": [ "608968" ], "alias_name": null, "gene_symbol": "MAFB", "hgnc_symbol": "MAFB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:39314488-39317880", "ensembl_id": "ENSG00000204103" } }, "GRch38": { "90": { "location": "20:40685848-40689240", "ensembl_id": "ENSG00000204103" } } }, "hgnc_date_symbol_changed": "2001-11-30" }, "entity_type": "gene", "entity_name": "MAFB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29779709", "22387013" ], "evidence": [ "NHS GMS" ], "phenotypes": [ "FSGS with Duane retraction syndrome" ], "mode_of_inheritance": "", "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": [ "Talpid3", "JBTS23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19960", "gene_name": "KIAA0586", "omim_gene": [ "610178" ], "alias_name": null, "gene_symbol": "KIAA0586", "hgnc_symbol": "KIAA0586", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:58894103-59015216", "ensembl_id": "ENSG00000100578" } }, "GRch38": { "90": { "location": "14:58427385-58551289", "ensembl_id": "ENSG00000100578" } } }, "hgnc_date_symbol_changed": "2003-11-21" }, "entity_type": "gene", "entity_name": "KIAA0586", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26096313" ], "evidence": [ "Expert Review Green", "Expert list", "Other" ], "phenotypes": [ "Joubert syndrome 23", "Joubert syndrome", "Short-rib thoracic dysplasia 14 with polydactyly", "Short-rib dysplasia 14 with polydactyly" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 722, "hash_id": null, "name": "Ophthalmological ciliopathies", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.7", "version_created": "2024-04-26T11:22:15.831298Z", "relevant_disorders": [], "stats": { "number_of_genes": 93, "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." } ] }, "transcript": null }, { "gene_data": { "alias": [ "MWFE", "CI-MWFE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7683", "gene_name": "NADH:ubiquinone oxidoreductase subunit A1", "omim_gene": [ "300078" ], "alias_name": [ "NADH:ubiquinone oxidoreductase (complex 1)", "type I dehydrogenase", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "complex I MWFE subunit" ], "gene_symbol": "NDUFA1", "hgnc_symbol": "NDUFA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:119005450-119010625", "ensembl_id": "ENSG00000125356" } }, "GRch38": { "90": { "location": "X:119871487-119876662", "ensembl_id": "ENSG00000125356" } } }, "hgnc_date_symbol_changed": "1996-08-16" }, "entity_type": "gene", "entity_name": "NDUFA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "MetBioNet", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 12, 301020" ], "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": 749, "hash_id": null, "name": "Paediatric or syndromic cardiomyopathy", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.47", "version_created": "2024-04-23T13:12:59.575255Z", "relevant_disorders": [ "Cardiomyopathies - including childhood onset", "R135" ], "stats": { "number_of_genes": 225, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS 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": [ "EGFR-RS", "FLJ2235", "Dist1", "iRhom1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20561", "gene_name": "rhomboid 5 homolog 1", "omim_gene": [ "614403" ], "alias_name": null, "gene_symbol": "RHBDF1", "hgnc_symbol": "RHBDF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:108058-126354", "ensembl_id": "ENSG00000007384" } }, "GRch38": { "90": { "location": "16:58059-76355", "ensembl_id": "ENSG00000007384" } } }, "hgnc_date_symbol_changed": "2003-04-07" }, "entity_type": "gene", "entity_name": "RHBDF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32870709" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Dilated cardiomyopathy, MONDO:0005021" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "watchlist" ], "panel": { "id": 749, "hash_id": null, "name": "Paediatric or syndromic cardiomyopathy", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.47", "version_created": "2024-04-23T13:12:59.575255Z", "relevant_disorders": [ "Cardiomyopathies - including childhood onset", "R135" ], "stats": { "number_of_genes": 225, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS 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": [ "KIAA1073" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7450", "gene_name": "myotubularin related protein 2", "omim_gene": [ "603557" ], "alias_name": [ "phosphatidylinositol-3-phosphatase", "phosphoinositide-3-phosphatase" ], "gene_symbol": "MTMR2", "hgnc_symbol": "MTMR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:95566046-95658479", "ensembl_id": "ENSG00000087053" } }, "GRch38": { "90": { "location": "11:95832882-95925315", "ensembl_id": "ENSG00000087053" } } }, "hgnc_date_symbol_changed": "1999-02-05" }, "entity_type": "gene", "entity_name": "MTMR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10802647", "28509084" ], "evidence": [ "Radboud University Medical Center, Nijmegen", "South West GLH", "Expert Review Green", "UKGTN", "Emory Genetics Laboratory", "Expert list", "London North GLH", "Illumina TruGenome Clinical Sequencing Services", "NHS GMS", "South West GLH", "NHS GMS", "London North GLH" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 4B1, 601382" ], "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": [ "GroEL", "HSP60" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5261", "gene_name": "heat shock protein family D (Hsp60) member 1", "omim_gene": [ "118190" ], "alias_name": null, "gene_symbol": "HSPD1", "hgnc_symbol": "HSPD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:198351305-198381461", "ensembl_id": "ENSG00000144381" } }, "GRch38": { "90": { "location": "2:197486581-197516737", "ensembl_id": "ENSG00000144381" } } }, "hgnc_date_symbol_changed": "1991-07-19" }, "entity_type": "gene", "entity_name": "HSPD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18571143", "27405012" ], "evidence": [ "Expert Review Green", "London North GLH" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 4, OMIM:612233" ], "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": [ "HLC14-06-P", "dJ794I6.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6176", "gene_name": "inosine triphosphatase", "omim_gene": [ "147520" ], "alias_name": [ "nucleoside-triphosphate diphosphatase" ], "gene_symbol": "ITPA", "hgnc_symbol": "ITPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:3189514-3204516", "ensembl_id": "ENSG00000125877" } }, "GRch38": { "90": { "location": "20:3208868-3223870", "ensembl_id": "ENSG00000125877" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ITPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "[Inosine triphosphatase deficiency], 613850", "Epileptic encephalopathy, early infantile, 35, 616647" ], "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": [ "KIAA0036", "NPHP5", "SLSN5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28949", "gene_name": "IQ motif containing B1", "omim_gene": [ "609237" ], "alias_name": [ "nephrocystin-5" ], "gene_symbol": "IQCB1", "hgnc_symbol": "IQCB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:121488610-121553926", "ensembl_id": "ENSG00000173226" } }, "GRch38": { "90": { "location": "3:121769763-121835079", "ensembl_id": "ENSG00000173226" } } }, "hgnc_date_symbol_changed": "2004-03-05" }, "entity_type": "gene", "entity_name": "IQCB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Senior-Loken syndrome 5, 609254" ], "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": [ "MGC12290", "MGC13378" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29569", "gene_name": "lipoyltransferase 1", "omim_gene": [ "610284" ], "alias_name": null, "gene_symbol": "LIPT1", "hgnc_symbol": "LIPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:99771418-99779620", "ensembl_id": "ENSG00000144182" } }, "GRch38": { "90": { "location": "2:99154955-99163157", "ensembl_id": "ENSG00000144182" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "LIPT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Lipoyltransferase 1 deficiency, 616299" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7562", "gene_name": "myeloid differentiation primary response 88", "omim_gene": [ "602170" ], "alias_name": null, "gene_symbol": "MYD88", "hgnc_symbol": "MYD88", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38179969-38184513", "ensembl_id": "ENSG00000172936" } }, "GRch38": { "90": { "location": "3:38138478-38143022", "ensembl_id": "ENSG00000172936" } } }, "hgnc_date_symbol_changed": "1997-12-23" }, "entity_type": "gene", "entity_name": "MYD88", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10891", "gene_name": "SIX homeobox 5", "omim_gene": [ "600963" ], "alias_name": null, "gene_symbol": "SIX5", "hgnc_symbol": "SIX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46268043-46272484", "ensembl_id": "ENSG00000177045" } }, "GRch38": { "90": { "location": "19:45764785-45769226", "ensembl_id": "ENSG00000177045" } } }, "hgnc_date_symbol_changed": "1997-05-29" }, "entity_type": "gene", "entity_name": "SIX5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Branchiootorenal syndrome 2, 610896" ], "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": [ "MTP1", "IREG1", "FPN1", "HFE4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10909", "gene_name": "solute carrier family 40 member 1", "omim_gene": [ "604653" ], "alias_name": [ "ferroportin 1" ], "gene_symbol": "SLC40A1", "hgnc_symbol": "SLC40A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:190425305-190448484", "ensembl_id": "ENSG00000138449" } }, "GRch38": { "90": { "location": "2:189560579-189583758", "ensembl_id": "ENSG00000138449" } } }, "hgnc_date_symbol_changed": "2003-06-05" }, "entity_type": "gene", "entity_name": "SLC40A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Hemochromatosis, type 4, 606069" ], "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": [ "TACI", "CD267", "IGAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18153", "gene_name": "TNF receptor superfamily member 13B", "omim_gene": [ "604907" ], "alias_name": null, "gene_symbol": "TNFRSF13B", "hgnc_symbol": "TNFRSF13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:16832849-16875432", "ensembl_id": "ENSG00000240505" } }, "GRch38": { "90": { "location": "17:16929816-16972118", "ensembl_id": "ENSG00000240505" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "TNFRSF13B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunoglobulin A deficiency 2, 609529", "Immunodeficiency, common variable, 2, 240500" ], "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:12009", "gene_name": "triosephosphate isomerase 1", "omim_gene": [ "190450" ], "alias_name": null, "gene_symbol": "TPI1", "hgnc_symbol": "TPI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6976283-6980112", "ensembl_id": "ENSG00000111669" } }, "GRch38": { "90": { "location": "12:6867119-6870948", "ensembl_id": "ENSG00000111669" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TPI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Hemolytic anemia due to triosephosphate isomerase deficiency, 615512" ], "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": [ "GERP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15579", "gene_name": "tripartite motif containing 8", "omim_gene": [ "606125" ], "alias_name": [ "glioblastoma expressed ring finger protein" ], "gene_symbol": "TRIM8", "hgnc_symbol": "TRIM8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104404253-104418164", "ensembl_id": "ENSG00000171206" } }, "GRch38": { "90": { "location": "10:102644496-102658407", "ensembl_id": "ENSG00000171206" } } }, "hgnc_date_symbol_changed": "2002-06-14" }, "entity_type": "gene", "entity_name": "TRIM8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Seizures", "Global developmental delay", "Intellectual disability" ], "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": [ "MGC21559", "MGC111193" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3006", "gene_name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory", "omim_gene": [ "603564" ], "alias_name": [ "DPM synthase complex subunit" ], "gene_symbol": "DPM2", "hgnc_symbol": "DPM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:130697378-130700763", "ensembl_id": "ENSG00000136908" } }, "GRch38": { "90": { "location": "9:127935099-127938484", "ensembl_id": "ENSG00000136908" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "DPM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Congenital disorder of glycosylation, type Iu, 615042" ], "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": [ "TKT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2731", "gene_name": "discoidin domain receptor tyrosine kinase 2", "omim_gene": [ "191311" ], "alias_name": null, "gene_symbol": "DDR2", "hgnc_symbol": "DDR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:162601163-162757190", "ensembl_id": "ENSG00000162733" } }, "GRch38": { "90": { "location": "1:162631373-162787400", "ensembl_id": "ENSG00000162733" } } }, "hgnc_date_symbol_changed": "1999-06-17" }, "entity_type": "gene", "entity_name": "DDR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Warburg-Cinotti syndrome, 618175", "Spondylometaepiphyseal dysplasia, short limb-hand type, 271665" ], "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:3091", "gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "omim_gene": [ "600855" ], "alias_name": null, "gene_symbol": "DYRK1A", "hgnc_symbol": "DYRK1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:38738092-38889753", "ensembl_id": "ENSG00000157540" } }, "GRch38": { "90": { "location": "21:37365790-37517450", "ensembl_id": "ENSG00000157540" } } }, "hgnc_date_symbol_changed": "1999-01-29" }, "entity_type": "gene", "entity_name": "DYRK1A", "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 7, 614104" ], "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": [ "CSA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3439", "gene_name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit", "omim_gene": [ "609412" ], "alias_name": null, "gene_symbol": "ERCC8", "hgnc_symbol": "ERCC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60169658-60240900", "ensembl_id": "ENSG00000049167" } }, "GRch38": { "90": { "location": "5:60873831-60945073", "ensembl_id": "ENSG00000049167" } } }, "hgnc_date_symbol_changed": "1995-02-07" }, "entity_type": "gene", "entity_name": "ERCC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Cockayne syndrome, type A, 216400", "UV-sensitive syndrome 2, 614621" ], "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 } ] }