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"Emory Genetics Laboratory", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "multiple epiphyseal dysplasia", "Multiple Epiphyseal Dysplasia, Recessive", "Epiphyseal dysplasia, multiple, 4" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 211, "hash_id": "553f968cbb5a1616e5ed45cd", "name": "Multiple Epiphyseal Dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.6", "version_created": "2021-10-27T10:59:22.658760Z", "relevant_disorders": [], "stats": { "number_of_genes": 11, "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": [ "12R-LOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:430", "gene_name": "arachidonate 12-lipoxygenase, 12R type", "omim_gene": [ "603741" ], "alias_name": null, "gene_symbol": "ALOX12B", "hgnc_symbol": "ALOX12B", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "17:7975954-7991021", "ensembl_id": "ENSG00000179477" } }, "GRch38": { "90": { "location": "17:8072636-8087703", "ensembl_id": "ENSG00000179477" } } }, "hgnc_date_symbol_changed": "1998-07-22" }, "entity_type": "gene", "entity_name": "ALOX12B", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "11773004", "17139268", "19890349", "16116617" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)", "Nonbullous congenital ichthyosiform erythroderma (NBCIE)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 215, "hash_id": "562f5e7822c1fc582756e3bb", "name": "Palmoplantar keratoderma and erythrokeratodermas", "disease_group": "Dermatological 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"cochlin", "omim_gene": [ "603196" ], "alias_name": null, "gene_symbol": "COCH", "hgnc_symbol": "COCH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:31343720-31364271", "ensembl_id": "ENSG00000100473" } }, "GRch38": { "90": { "location": "14:30874514-30895065", "ensembl_id": "ENSG00000100473" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "COCH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [ "28787010", "9806553", "10400989", "14512963", "14704763", "26758463" ], "evidence": [ "Expert Review Green", "Literature", "UKGTN", "Radboud University Medical Center, Nijmegen", "Emory Genetics Laboratory", "Other" ], "phenotypes": [ "Deafness, autosomal dominant 9, 601369", "cochlear-vestibular dysfunction" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "watchlist" ], "panel": { "id": 394, "hash_id": null, "name": "Familial Meniere Disease", "disease_group": "Hearing and ear disorders", "disease_sub_group": "Other hearing and ear disorders", "status": "public", "version": "1.3", "version_created": "2022-01-10T17:59:41.146518Z", "relevant_disorders": [], "stats": { "number_of_genes": 130, "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:1675", "gene_name": "CD3g molecule", "omim_gene": [ "186740" ], "alias_name": null, "gene_symbol": "CD3G", "hgnc_symbol": "CD3G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118215059-118225876", "ensembl_id": "ENSG00000160654" } }, "GRch38": { "90": { "location": "11:118344344-118355161", "ensembl_id": "ENSG00000160654" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "CD3G", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "UKGTN" ], "phenotypes": [ "Inflammatory Bowel Disease (Very Early Onset)" ], "mode_of_inheritance": "", "tags": [], "panel": { "id": 33, "hash_id": "56ba026422c1fc5025762b4f", "name": "Gastrointestinal epithelial barrier disorders", "disease_group": "Gastroenterological disorders", "disease_sub_group": "Gastrointestinal disorders", "status": "public", "version": "1.75", "version_created": "2024-04-02T14:17:05.871791Z", "relevant_disorders": [], "stats": { "number_of_genes": 83, "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:13666", "gene_name": "aladin WD repeat nucleoporin", "omim_gene": [ "605378" ], "alias_name": [ "aladin", "Allgrove, triple-A", "adracalin" ], "gene_symbol": "AAAS", "hgnc_symbol": "AAAS", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "12:53701240-53718648", "ensembl_id": "ENSG00000094914" } }, "GRch38": { "90": { "location": "12:53307456-53324864", "ensembl_id": "ENSG00000094914" } } }, "hgnc_date_symbol_changed": "2000-11-08" }, "entity_type": "gene", "entity_name": "AAAS", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "11062474, 7895750" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Emory Genetics Laboratory", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "Achalasia-addisonianism-alacrimia syndrome, OMIM:231550", "Triple-A syndrome, MONDO:0009279" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 7, "hash_id": "5763f1d68f620350a22bccdc", "name": "Familial dysautonomia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.17", "version_created": "2022-04-05T10:52:55.518732Z", "relevant_disorders": [], "stats": { "number_of_genes": 23, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22559", "bA541N10.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26200", "gene_name": "STN1, CST complex subunit", "omim_gene": [ "613128" ], "alias_name": null, "gene_symbol": "STN1", "hgnc_symbol": "STN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105642300-105677963", "ensembl_id": "ENSG00000107960" } }, "GRch38": { "90": { "location": "10:103882542-103918205", "ensembl_id": "ENSG00000107960" } } }, "hgnc_date_symbol_changed": "2016-10-04" }, "entity_type": "gene", "entity_name": "STN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32086639", "32048120" ], "evidence": [ "Expert Review Green", "IUIS Classification December 2019", "IUIS Classification February 2018", "IUIS Classification December 2019", "IUIS Classification February 2018" ], "phenotypes": [ "Combined immunodeficiencies with associated or syndromic features", "Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres", "Bone marrow failure" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 111, "hash_id": "58c7fd7f8f6203413360f1b6", "name": "COVID-19 research", "disease_group": "Viral research", "disease_sub_group": "", "status": "public", "version": "1.141", "version_created": "2024-01-04T14:08:43.065350Z", "relevant_disorders": [ "Viral susceptibility" ], "stats": { "number_of_genes": 695, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3791", "gene_name": "folate receptor 1", "omim_gene": [ "136430" ], "alias_name": [ "folate receptor alpha" ], "gene_symbol": "FOLR1", "hgnc_symbol": "FOLR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71900602-71907345", "ensembl_id": "ENSG00000110195" } }, "GRch38": { "90": { "location": "11:72189558-72196323", "ensembl_id": "ENSG00000110195" } } }, "hgnc_date_symbol_changed": "1991-08-08" }, "entity_type": "gene", "entity_name": "FOLR1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "OMIM", "Expert list" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 111, "hash_id": "58c7fd7f8f6203413360f1b6", "name": "COVID-19 research", "disease_group": "Viral research", "disease_sub_group": "", "status": "public", "version": "1.141", "version_created": "2024-01-04T14:08:43.065350Z", "relevant_disorders": [ "Viral susceptibility" ], "stats": { "number_of_genes": 695, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0912", "SCKL5", "MCPH9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29298", "gene_name": "centrosomal protein 152", "omim_gene": [ "613529" ], "alias_name": [ "asterless" ], "gene_symbol": "CEP152", "hgnc_symbol": "CEP152", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "15:49005125-49103343", "ensembl_id": "ENSG00000103995" } }, "GRch38": { "90": { "location": "15:48712928-48811146", "ensembl_id": "ENSG00000103995" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "CEP152", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "21131973" ], "evidence": [ "Expert Review Amber", "Yorkshire and North East GLH", "NHS GMS", "UKGTN", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "Seckel syndrome 5, OMIM:613823" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 147, "hash_id": "5819a24f8f6203341de99c89", "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Cerebrovascular disorders", "status": "public", "version": "3.15", "version_created": "2024-04-12T21:51:39.569689Z", "relevant_disorders": [ "Cerebrovascular disorders", "Vein of Galen malformation", "Cerebral arteriovenous malformations", "Moyamoya disease", "R336" ], "stats": { "number_of_genes": 105, "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": [ "ACTSA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:130", "gene_name": "actin, alpha 2, smooth muscle, aorta", "omim_gene": [ "102620" ], "alias_name": null, "gene_symbol": "ACTA2", "hgnc_symbol": "ACTA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:90694831-90751147", "ensembl_id": "ENSG00000107796" } }, "GRch38": { "90": { "location": "10:88935074-88991339", "ensembl_id": "ENSG00000107796" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "ACTA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20734336", "29300374" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Multisystemic smooth muscle dysfunction syndrome, OMIM:613834" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "HTX", "ZNF203" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12874", "gene_name": "Zic family member 3", "omim_gene": [ "300265" ], "alias_name": null, "gene_symbol": "ZIC3", "hgnc_symbol": "ZIC3", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "X:136648301-136659850", "ensembl_id": "ENSG00000156925" } }, "GRch38": { "90": { "location": "X:137566142-137577691", "ensembl_id": "ENSG00000156925" } } }, "hgnc_date_symbol_changed": "1993-11-16" }, "entity_type": "gene", "entity_name": "ZIC3", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "PMID: 21465648" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "VACTERL Association, X-linked", "Heterotaxy, visceral, 1, X-linked 306955" ], "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": 101, "hash_id": "553f9598bb5a1616e5ed45ae", "name": "VACTERL-like phenotypes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Limb disorders", "status": "public", "version": "1.34", "version_created": "2023-05-03T11:13:26.293434Z", "relevant_disorders": [], "stats": { "number_of_genes": 62, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "XPB", "BTF2", "RAD25", "TFIIH", 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"CSTB_CCCCGCCCCGCG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert list" ], "phenotypes": [ "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "repeated_sequence": "CCCCGCCCCGCG", "chromosome": "21", "grch37_coordinates": [ 45196328, 45196351 ], "grch38_coordinates": [ 43776429, 43776470 ], "normal_repeats": 18, "pathogenic_repeats": 30, "tags": [ "STR" ], "panel": { "id": 540, "hash_id": null, "name": "Adult onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.18", "version_created": "2023-10-26T10:55:08.890471Z", "relevant_disorders": [ "Adult onset movement disorder", "R56" ], "stats": { "number_of_genes": 206, "number_of_strs": 11, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease 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 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." } ] } } ] }