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"Haematological disorders", "disease_sub_group": "Primary immunodeficiency disorders", "status": "public", "version": "1.17", "version_created": "2024-04-16T15:05:28.401748Z", "relevant_disorders": [ "R413" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [ "AIS", "NR3C4", "SMAX1", "HUMARA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:644", "gene_name": "androgen receptor", "omim_gene": [ "313700" ], "alias_name": [ "testicular feminization", "Kennedy disease" ], "gene_symbol": "AR", "hgnc_symbol": "AR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:66764465-66950461", "ensembl_id": "ENSG00000169083" } }, "GRch38": { "90": { "location": "X:67544032-67730619", "ensembl_id": "ENSG00000169083" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "str", "entity_name": "AR_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinal and bulbar muscular atrophy or Kennedy diseases 313200" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "repeated_sequence": "CAG", "chromosome": "X", "grch37_coordinates": [ 66765160, 66765225 ], "grch38_coordinates": [ 67545316, 67545383 ], "normal_repeats": 34, "pathogenic_repeats": 38, "tags": [ "STR" ], "panel": { "id": 465, "hash_id": null, "name": "Other rare neuromuscular disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "19.202", "version_created": "2024-04-03T11:24:49.009776Z", "relevant_disorders": [ "Neuromuscular disorders", "R381" ], "stats": { "number_of_genes": 458, "number_of_strs": 7, "number_of_regions": 8 }, "types": [ { "name": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ] } }, { "gene_data": { "alias": [ "PR55-BETA", "PR52B", "B55beta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9305", "gene_name": "protein phosphatase 2 regulatory subunit Bbeta", "omim_gene": [ "604325" ], "alias_name": [ "PP2A subunit B isoform beta" ], "gene_symbol": "PPP2R2B", "hgnc_symbol": "PPP2R2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:145967936-146464347", "ensembl_id": "ENSG00000156475" } }, "GRch38": { "90": { "location": "5:146581146-147084784", "ensembl_id": "ENSG00000156475" } } }, "hgnc_date_symbol_changed": "1993-01-25" }, "entity_type": "str", "entity_name": "PPP2R2B_CAG", "confidence_level": "2", "penetrance": null, "publications": [ "20301381" ], "evidence": [ "Expert Review Amber", "Yorkshire and North East GLH", "NHS GMS", "London North GLH", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 12, OMIM:604326" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "5", "grch37_coordinates": [ 146258292, 146258321 ], "grch38_coordinates": [ 146878729, 146878758 ], "normal_repeats": 33, "pathogenic_repeats": 43, "tags": [ "watchlist", "STR" ], "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 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." } ] } } ] }