Str Search List
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{ "count": 198, "next": null, "previous": "https://panelapp.genomicsengland.co.uk/api/v1/strs/?format=api", "results": [ { "gene_data": { "alias": [ "FA", "FARR", "X25", "CyaY" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3951", "gene_name": "frataxin", "omim_gene": [ "606829" ], "alias_name": null, "gene_symbol": "FXN", "hgnc_symbol": "FXN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:71650175-71715094", "ensembl_id": "ENSG00000165060" } }, "GRch38": { "90": { "location": "9:69035259-69100178", "ensembl_id": "ENSG00000165060" } } }, "hgnc_date_symbol_changed": "2004-08-19" }, "entity_type": "str", "entity_name": "FXN_GAA", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "South West GLH", "London North GLH", "Expert Review Green", "Expert list" ], "phenotypes": [ "Friedreich ataxia, OMIM:229300", "Friedreich ataxia with retained reflexes, OMIM:229300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "repeated_sequence": "GAA", "chromosome": "9", "grch37_coordinates": [ 71652203, 71652220 ], "grch38_coordinates": [ 69037287, 69037304 ], "normal_repeats": 44, "pathogenic_repeats": 66, "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." } ] } }, { "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": [ "NHS GMS", "South West GLH", "London North GLH", "Expert Review Green", "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": [ "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." } ] } }, { "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": [ "OPCA3", "ADCAII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10560", "gene_name": "ataxin 7", "omim_gene": [ "607640" ], "alias_name": null, "gene_symbol": "ATXN7", "hgnc_symbol": "ATXN7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:63850233-63989138", "ensembl_id": "ENSG00000163635" } }, "GRch38": { "90": { "location": "3:63864557-64003462", "ensembl_id": "ENSG00000163635" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "str", "entity_name": "ATXN7_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "South West GLH", "London North GLH", "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 7, OMIM:164500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "3", "grch37_coordinates": [ 63898362, 63898391 ], "grch38_coordinates": [ 63912686, 63912715 ], "normal_repeats": 28, "pathogenic_repeats": 37, "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." } ] } }, { "gene_data": { "alias": [ "E46L", "FLJ37990" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10549", "gene_name": "ataxin 10", "omim_gene": [ "611150" ], "alias_name": null, "gene_symbol": "ATXN10", "hgnc_symbol": "ATXN10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:46067678-46241187", "ensembl_id": "ENSG00000130638" } }, "GRch38": { "90": { "location": "22:45671798-45845307", "ensembl_id": "ENSG00000130638" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "str", "entity_name": "ATXN10_ATTCT", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "South West GLH", "London North GLH", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 10, OMIM:603516" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "ATTCT", "chromosome": "22", "grch37_coordinates": [ 46191235, 46191304 ], "grch38_coordinates": [ 45795355, 45795424 ], "normal_repeats": 33, "pathogenic_repeats": 800, "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." } ] } }, { "gene_data": { "alias": [ "ATX3", "JOS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7106", "gene_name": "ataxin 3", "omim_gene": [ "607047" ], "alias_name": null, "gene_symbol": "ATXN3", "hgnc_symbol": "ATXN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92524896-92572965", "ensembl_id": "ENSG00000066427" } }, "GRch38": { "90": { "location": "14:92038652-92106621", "ensembl_id": "ENSG00000066427" } } }, "hgnc_date_symbol_changed": "2004-08-13" }, "entity_type": "str", "entity_name": "ATXN3_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "South West GLH", "London North GLH", "Expert Review Green", "Expert list" ], "phenotypes": [ "Machado-Joseph disease, OMIM:109150" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "14", "grch37_coordinates": [ 92537355, 92537396 ], "grch38_coordinates": [ 92071011, 92071052 ], "normal_repeats": 45, "pathogenic_repeats": 60, "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." } ] } }, { "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": [], "evidence": [ "NHS GMS", "South West GLH", "London North GLH", "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 17, OMIM:607136" ], "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": 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": [ "ATX2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10555", "gene_name": "ataxin 2", "omim_gene": [ "601517" ], "alias_name": [ "trinucleotide repeat containing 13" ], "gene_symbol": "ATXN2", "hgnc_symbol": "ATXN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:111890018-112037480", "ensembl_id": "ENSG00000204842" } }, "GRch38": { "90": { "location": "12:111452214-111599676", "ensembl_id": "ENSG00000204842" } } }, "hgnc_date_symbol_changed": "2004-08-13" }, "entity_type": "str", "entity_name": "ATXN2_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": [ "NHS GMS", "South West GLH", "London North GLH", "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 2, OMIM:183090", "{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "12", "grch37_coordinates": [ 112036755, 112036823 ], "grch38_coordinates": [ 111598951, 111599019 ], "normal_repeats": 32, "pathogenic_repeats": 35, "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." } ] } }, { "gene_data": { "alias": [ "E46L", "FLJ37990" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10549", "gene_name": "ataxin 10", "omim_gene": [ "611150" ], "alias_name": null, "gene_symbol": "ATXN10", "hgnc_symbol": "ATXN10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:46067678-46241187", "ensembl_id": "ENSG00000130638" } }, "GRch38": { "90": { "location": "22:45671798-45845307", "ensembl_id": "ENSG00000130638" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "str", "entity_name": "ATXN10_ATTCT", "confidence_level": "2", "penetrance": null, "publications": [], "evidence": [ "Expert Review Amber", "NHS GMS", "South West GLH", "London North GLH", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 10, OMIM:603516" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "ATTCT", "chromosome": "22", "grch37_coordinates": [ 46191235, 46191304 ], "grch38_coordinates": [ 45795355, 45795424 ], "normal_repeats": 33, "pathogenic_repeats": 800, "tags": [ "STR", "watchlist" ], "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." } ] } }, { "gene_data": { "alias": [ "ATX3", "JOS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7106", "gene_name": "ataxin 3", "omim_gene": [ "607047" ], "alias_name": null, "gene_symbol": "ATXN3", "hgnc_symbol": "ATXN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92524896-92572965", "ensembl_id": "ENSG00000066427" } }, "GRch38": { "90": { "location": "14:92038652-92106621", "ensembl_id": "ENSG00000066427" } } }, "hgnc_date_symbol_changed": "2004-08-13" }, "entity_type": "str", "entity_name": "ATXN3_CAG", "confidence_level": "2", "penetrance": null, "publications": [], "evidence": [ "Expert Review Amber", "Yorkshire 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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": [ "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": [ "STR", "watchlist" ], "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." } ] } }, { "gene_data": { "alias": [ "SCA36" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15911", "gene_name": "NOP56 ribonucleoprotein", "omim_gene": [ "614154" ], "alias_name": [ "spinocerebellar ataxia 36" ], "gene_symbol": "NOP56", "hgnc_symbol": "NOP56", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:2632791-2639039", "ensembl_id": "ENSG00000101361" } }, "GRch38": { "90": { "location": "20:2652145-2658393", "ensembl_id": "ENSG00000101361" } } }, "hgnc_date_symbol_changed": "2009-01-13" }, "entity_type": "str", "entity_name": "NOP56_GGCCTG", "confidence_level": "2", "penetrance": null, "publications": [], "evidence": [ "Expert Review Amber", "Yorkshire and North East GLH", "NHS GMS", "London North GLH", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 36, OMIM:614153" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GGCCTG", "chromosome": "20", "grch37_coordinates": [ 2633380, 2633403 ], "grch38_coordinates": [ 2652734, 2652757 ], "normal_repeats": 15, "pathogenic_repeats": 650, "tags": [ "STR", "watchlist" ], "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 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"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": [ "Yorkshire and North East GLH", "NHS GMS", "London North GLH", "Expert Review Green", "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": 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 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[ "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": [ "NHS GMS", "Expert Review Green", "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": 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": 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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." } ] } }, { "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": 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"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)" } ] } }, { "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", 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"2024-04-17T10:33:09.228603Z", "relevant_disorders": [ "R21", "Fetal anomalies with a likely genetic cause", "Fetal anomalies with a likely genetic cause - non urgent", "R412" ], "stats": { "number_of_genes": 1987, "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)" } ] } }, { "gene_data": { "alias": [ "AIS", "NR3C4", "SMAX1", "HUMARA" ], "biotype": "protein_coding", 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"Adult onset movement disorder", "R56" ], "stats": { "number_of_genes": 206, "number_of_strs": 11, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." } ] } }, { "gene_data": { "alias": [ "ATX2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10555", "gene_name": "ataxin 2", "omim_gene": [ "601517" ], "alias_name": [ "trinucleotide repeat containing 13" ], "gene_symbol": "ATXN2", 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ataxia with retained reflexes OMIM:229300", "Friedreich ataxia 1 MONDO:0100340" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "repeated_sequence": "GAA", "chromosome": "9", "grch37_coordinates": [ 71652203, 71652220 ], "grch38_coordinates": [ 69037287, 69037304 ], "normal_repeats": 44, "pathogenic_repeats": 66, "tags": [ "STR" ], "panel": { "id": 847, "hash_id": null, "name": "Childhood onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.75", "version_created": "2024-04-09T15:06:09.624592Z", "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." } ] } }, { "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": "3", "penetrance": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "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" ], "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." } ] } } ] }