Str Search List
Search STRs
GET /api/v1/strs/
{ "count": 196, "next": "https://panelapp.genomicsengland.co.uk/api/v1/strs/?page=2", "previous": null, "results": [ { "gene_data": { "alias": [ "RNF163", "ZCCHC22", "CNBP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13164", "gene_name": "CCHC-type zinc finger nucleic acid binding protein", "omim_gene": [ "116955" ], "alias_name": null, "gene_symbol": "CNBP", "hgnc_symbol": "CNBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:128888327-128902765", "ensembl_id": "ENSG00000169714" } }, "GRch38": { "90": { "location": "3:129169484-129183922", "ensembl_id": "ENSG00000169714" } } }, "hgnc_date_symbol_changed": "2006-06-29" }, "entity_type": "str", "entity_name": "CNBP_CCTG", "confidence_level": "1", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "Expert Review Red", "Expert list" ], "phenotypes": [ "Myotonic dystrophy 2, OMIM:602668", "Myotonic dystrophy type 2, MONDO:0011266" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAGG", "chromosome": "3", "grch37_coordinates": [ 128891420, 128891499 ], "grch38_coordinates": [ 129172577, 129172656 ], "normal_repeats": 27, "pathogenic_repeats": 75, "tags": [ "STR", "NGS Not Validated" ], "panel": { "id": 229, "hash_id": "55c4a3ed22c1fc0fe5e416e9", "name": "Skeletal Muscle Channelopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Channelopathies", "status": "public", "version": "1.45", "version_created": "2022-03-10T17:10:13.493246Z", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": { "alias": [ "DMK", "DM1PK", "MDPK", "MT-PK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2933", "gene_name": "DM1 protein kinase", "omim_gene": [ "605377" ], "alias_name": [ "dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog" ], "gene_symbol": "DMPK", "hgnc_symbol": "DMPK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46272975-46285810", "ensembl_id": "ENSG00000104936" } }, "GRch38": { "90": { "location": "19:45769717-45782552", "ensembl_id": "ENSG00000104936" } } }, "hgnc_date_symbol_changed": "1997-10-10" }, "entity_type": "str", "entity_name": "DMPK_CTG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert list" ], "phenotypes": [ "Myotonic dystrophy 1, OMIM:160900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "19", "grch37_coordinates": [ 46273463, 46273522 ], "grch38_coordinates": [ 45770205, 45770264 ], "normal_repeats": 35, "pathogenic_repeats": 50, "tags": [ "STR" ], "panel": { "id": 229, "hash_id": "55c4a3ed22c1fc0fe5e416e9", "name": "Skeletal Muscle Channelopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Channelopathies", "status": "public", "version": "1.45", "version_created": "2022-03-10T17:10:13.493246Z", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": { "alias": [ "DMK", "DM1PK", "MDPK", "MT-PK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2933", "gene_name": "DM1 protein kinase", "omim_gene": [ "605377" ], "alias_name": [ "dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog" ], "gene_symbol": "DMPK", "hgnc_symbol": "DMPK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46272975-46285810", "ensembl_id": "ENSG00000104936" } }, "GRch38": { "90": { "location": "19:45769717-45782552", "ensembl_id": "ENSG00000104936" } } }, "hgnc_date_symbol_changed": "1997-10-10" }, "entity_type": "str", "entity_name": "DMPK_CTG", "confidence_level": "1", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "Expert Review Red", "Expert list" ], "phenotypes": [ "Myotonic dystrophy 1, OMIM:160900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "19", "grch37_coordinates": [ 46273463, 46273522 ], "grch38_coordinates": [ 45770205, 45770264 ], "normal_repeats": 35, "pathogenic_repeats": 50, "tags": [ "STR" ], "panel": { "id": 144, "hash_id": "5763f4868f620350a199604f", "name": "Fetal hydrops", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Fetal disorders", "status": "public", "version": "1.61", "version_created": "2023-07-26T10:19:26.703341Z", "relevant_disorders": [], "stats": { "number_of_genes": 91, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": { "alias": [ "RNF163", "ZCCHC22", "CNBP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13164", "gene_name": "CCHC-type zinc finger nucleic acid binding protein", "omim_gene": [ "116955" ], "alias_name": null, "gene_symbol": "CNBP", "hgnc_symbol": "CNBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:128888327-128902765", "ensembl_id": "ENSG00000169714" } }, "GRch38": { "90": { "location": "3:129169484-129183922", "ensembl_id": "ENSG00000169714" } } }, "hgnc_date_symbol_changed": "2006-06-29" }, "entity_type": "str", "entity_name": "CNBP_CCTG", "confidence_level": "1", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "Expert Review Red", "Expert list" ], "phenotypes": [ "Myotonic dystrophy 2, OMIM:602668", "Myotonic dystrophy type 2, MONDO:0011266" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAGG", "chromosome": "3", "grch37_coordinates": [ 128891420, 128891499 ], "grch38_coordinates": [ 129172577, 129172656 ], "normal_repeats": 27, "pathogenic_repeats": 75, "tags": [ "STR", "NGS Not Validated" ], "panel": { "id": 235, "hash_id": "55b7a0bb22c1fc05fd2345d1", "name": "Distal myopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "3.16", "version_created": "2023-10-25T21:25:56.162797Z", "relevant_disorders": [], "stats": { "number_of_genes": 31, "number_of_strs": 2, "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." } ] } }, { "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", "NHS GMS", "Expert list" ], "phenotypes": [ "Spinal and bulbar muscular atrophy of Kennedy, OMIM: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": 35, "pathogenic_repeats": 38, "tags": [ "STR" ], "panel": { "id": 235, "hash_id": "55b7a0bb22c1fc05fd2345d1", "name": "Distal myopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "3.16", "version_created": "2023-10-25T21:25:56.162797Z", "relevant_disorders": [], "stats": { "number_of_genes": 31, "number_of_strs": 2, "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." } ] } }, { "gene_data": { "alias": [ "IT15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4851", "gene_name": "huntingtin", "omim_gene": [ "613004" ], "alias_name": null, "gene_symbol": "HTT", "hgnc_symbol": "HTT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:3076408-3245676", "ensembl_id": "ENSG00000197386" } }, "GRch38": { "90": { "location": "4:3074681-3243959", "ensembl_id": "ENSG00000197386" } } }, "hgnc_date_symbol_changed": "2007-12-04" }, "entity_type": "str", "entity_name": "HTT_CAG", "confidence_level": "3", "penetrance": null, "publications": [ "24256063" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert list" ], "phenotypes": [ "Huntington disease, OMIM:143100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "4", "grch37_coordinates": [ 3076604, 3076666 ], "grch38_coordinates": [ 3074877, 3074939 ], "normal_repeats": 36, "pathogenic_repeats": 40, "tags": [ "STR", "anticipation" ], "panel": { "id": 39, "hash_id": "58078e6e8f62030e233a8157", "name": "Parkinson Disease and Complex Parkinsonism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodegenerative disorders", "status": "public", "version": "1.120", "version_created": "2023-08-22T15:07:11.336728Z", "relevant_disorders": [ "Complex Parkinsonism (includes pallido-pyramidal syndromes)", "Early onset and familial Parkinson's Disease" ], "stats": { "number_of_genes": 71, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "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": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review" ], "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": [ "STR" ], "panel": { "id": 39, "hash_id": "58078e6e8f62030e233a8157", "name": "Parkinson Disease and Complex Parkinsonism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodegenerative disorders", "status": "public", "version": "1.120", "version_created": "2023-08-22T15:07:11.336728Z", "relevant_disorders": [ "Complex Parkinsonism (includes pallido-pyramidal syndromes)", "Early onset and familial Parkinson's Disease" ], "stats": { "number_of_genes": 71, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": { "alias": [ "D6S504E", "ATX1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10548", "gene_name": "ataxin 1", "omim_gene": [ "601556" ], "alias_name": null, "gene_symbol": "ATXN1", "hgnc_symbol": "ATXN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:16299343-16761722", "ensembl_id": "ENSG00000124788" } }, "GRch38": { "90": { "location": "6:16299112-16761491", "ensembl_id": "ENSG00000124788" } } }, "hgnc_date_symbol_changed": "2004-08-13" }, "entity_type": "str", "entity_name": "ATXN1_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review" ], "phenotypes": [ "Spinocerebellar ataxia 1, OMIM:164400" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "6", "grch37_coordinates": [ 16327867, 16327953 ], "grch38_coordinates": [ 16327636, 16327722 ], "normal_repeats": 36, "pathogenic_repeats": 45, "tags": [ "STR" ], "panel": { "id": 39, "hash_id": "58078e6e8f62030e233a8157", "name": "Parkinson Disease and Complex Parkinsonism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodegenerative disorders", "status": "public", "version": "1.120", "version_created": "2023-08-22T15:07:11.336728Z", "relevant_disorders": [ "Complex Parkinsonism (includes pallido-pyramidal syndromes)", "Early onset and familial Parkinson's Disease" ], "stats": { "number_of_genes": 71, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": { "alias": [ "B37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3033", "gene_name": "atrophin 1", "omim_gene": [ "607462" ], "alias_name": null, "gene_symbol": "ATN1", "hgnc_symbol": "ATN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7033626-7051484", "ensembl_id": "ENSG00000111676" } }, "GRch38": { "90": { "location": "12:6924463-6942321", "ensembl_id": "ENSG00000111676" } } }, "hgnc_date_symbol_changed": "2005-03-17" }, "entity_type": "str", "entity_name": "ATN1_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review" ], "phenotypes": [ "Dentatorubral-pallidoluysian atrophy, OMIM:125370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "12", "grch37_coordinates": [ 7045880, 7045936 ], "grch38_coordinates": [ 6936717, 6936772 ], "normal_repeats": 36, "pathogenic_repeats": 48, "tags": [ "STR" ], "panel": { "id": 39, "hash_id": "58078e6e8f62030e233a8157", "name": "Parkinson Disease and Complex Parkinsonism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodegenerative disorders", "status": "public", "version": "1.120", "version_created": "2023-08-22T15:07:11.336728Z", "relevant_disorders": [ "Complex Parkinsonism (includes pallido-pyramidal syndromes)", "Early onset and familial Parkinson's Disease" ], "stats": { "number_of_genes": 71, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": { "alias": [ "TFIID" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11588", "gene_name": "TATA-box binding protein", "omim_gene": [ "600075" ], "alias_name": null, "gene_symbol": "TBP", "hgnc_symbol": "TBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:170863390-170881958", "ensembl_id": "ENSG00000112592" } }, "GRch38": { "90": { "location": "6:170554302-170572870", "ensembl_id": "ENSG00000112592" } } }, "hgnc_date_symbol_changed": "1993-05-26" }, "entity_type": "str", "entity_name": "TBP_CAG", "confidence_level": "3", "penetrance": null, "publications": [ "20301611", "34906452", "35493319" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 17, OMIM:607136", "{Parkinson disease, susceptibility to}, OMIM:168600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "6", "grch37_coordinates": [ 170870996, 170871109 ], "grch38_coordinates": [ 170561908, 170562021 ], "normal_repeats": 41, "pathogenic_repeats": 49, "tags": [ "STR" ], "panel": { "id": 39, "hash_id": "58078e6e8f62030e233a8157", "name": "Parkinson Disease and Complex Parkinsonism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodegenerative disorders", "status": "public", "version": "1.120", "version_created": "2023-08-22T15:07:11.336728Z", "relevant_disorders": [ "Complex Parkinsonism (includes pallido-pyramidal syndromes)", "Early onset and familial Parkinson's Disease" ], "stats": { "number_of_genes": 71, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": { "alias": [ "MGC23980", "DENNL72" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28337", "gene_name": "chromosome 9 open reading frame 72", "omim_gene": [ "614260" ], "alias_name": null, "gene_symbol": "C9orf72", "hgnc_symbol": "C9orf72", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:27546544-27573864", "ensembl_id": "ENSG00000147894" } }, "GRch38": { "90": { "location": "9:27546545-27573866", "ensembl_id": "ENSG00000147894" } } }, "hgnc_date_symbol_changed": "2004-01-06" }, "entity_type": "str", "entity_name": "C9orf72_GGGGCC", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert list" ], "phenotypes": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GGGGCC", "chromosome": "9", "grch37_coordinates": [ 27573527, 27573544 ], "grch38_coordinates": [ 27573529, 27573546 ], "normal_repeats": 24, "pathogenic_repeats": 200, 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"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": [ "IT15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4851", "gene_name": "huntingtin", "omim_gene": [ "613004" ], "alias_name": null, "gene_symbol": "HTT", "hgnc_symbol": "HTT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:3076408-3245676", "ensembl_id": "ENSG00000197386" } }, "GRch38": { "90": { "location": "4:3074681-3243959", "ensembl_id": "ENSG00000197386" } } }, "hgnc_date_symbol_changed": "2007-12-04" }, "entity_type": "str", "entity_name": "HTT_CAG", "confidence_level": "0", "penetrance": null, "publications": [], "evidence": [ "Expert Review Removed", "NHS GMS", "South West GLH", "London North GLH", "Expert list" ], "phenotypes": [ "Huntington disease, OMIM:143100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "4", "grch37_coordinates": [ 3076604, 3076666 ], "grch38_coordinates": [ 3074877, 3074939 ], "normal_repeats": 36, "pathogenic_repeats": 40, "tags": [ "STR", "curated_removed" ], "panel": { "id": 567, "hash_id": null, "name": "Adult onset hereditary spastic paraplegia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.21", "version_created": "2023-10-26T10:57:55.326415Z", "relevant_disorders": [ "Hereditary spastic paraplegia - adult onset", "R60" ], "stats": { "number_of_genes": 107, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." } ] } }, { "gene_data": { "alias": [ "Cav2.1", "EA2", "APCA", "HPCA", "FHM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1388", "gene_name": "calcium voltage-gated channel subunit alpha1 A", "omim_gene": [ "601011" ], "alias_name": null, "gene_symbol": "CACNA1A", "hgnc_symbol": "CACNA1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:13317256-13734804", "ensembl_id": "ENSG00000141837" } }, "GRch38": { "90": { "location": "19:13206442-13633025", "ensembl_id": "ENSG00000141837" } } }, "hgnc_date_symbol_changed": "1996-06-18" }, "entity_type": "str", "entity_name": "CACNA1A_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "South West GLH", "London North GLH", "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 6, OMIM:183086" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "19", "grch37_coordinates": [ 13318673, 13318711 ], "grch38_coordinates": [ 13207859, 13207897 ], "normal_repeats": 19, "pathogenic_repeats": 20, "tags": [ "STR" ], "panel": { "id": 567, "hash_id": null, "name": "Adult onset hereditary spastic paraplegia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.21", "version_created": "2023-10-26T10:57:55.326415Z", "relevant_disorders": [ "Hereditary spastic paraplegia - adult onset", "R60" ], "stats": { "number_of_genes": 107, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." } ] } } ] }