Signed Off Panel List
Signed Off Panels Versions
By default only the latest versions on public panels are returned.
To get all public and retired panels use display=all URL parameter.
This also returns previous versions for the panels.
You can also filter by panel_id to return only the versions for a
specific panel. To get all versions for a panel use both display=all
and panel_id together.
GET /api/v1/panels/signedoff/?format=api&page=2
{ "count": 298, "next": "https://panelapp.genomicsengland.co.uk/api/v1/panels/signedoff/?format=api&page=3", "previous": "https://panelapp.genomicsengland.co.uk/api/v1/panels/signedoff/?format=api", "results": [ { "id": 517, "name": "Combined factor V and VIII deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 2, "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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-03-03T17:05:01.006974Z", "disease_sub_group": "", "relevant_disorders": [ "R124" ], "signed_off": "2020-03-03" }, { "id": 518, "name": "Rare anaemia", "stats": { "number_of_strs": 0, "number_of_genes": 100, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:35:44.765582Z", "disease_sub_group": "", "relevant_disorders": [ "R92" ], "signed_off": "2023-03-22" }, { "id": 519, "name": "Cytopenia - NOT Fanconi anaemia", "stats": { "number_of_strs": 0, "number_of_genes": 128, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:40:08.591078Z", "disease_sub_group": "", "relevant_disorders": [ "R91" ], "signed_off": "2023-03-22" }, { "id": 521, "name": "Inherited renal cancer", "stats": { "number_of_strs": 0, "number_of_genes": 16, "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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-03-04T11:28:00.886832Z", "disease_sub_group": "", "relevant_disorders": [ "R224" ], "signed_off": "2020-03-04" }, { "id": 522, "name": "Familial melanoma", "stats": { "number_of_strs": 0, "number_of_genes": 8, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2022-11-30T15:37:04.858929Z", "disease_sub_group": "", "relevant_disorders": [ "R254" ], "signed_off": "2022-11-30" }, { "id": 523, "name": "Inherited predisposition to GIST", "stats": { "number_of_strs": 0, "number_of_genes": 7, "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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-03-04T11:51:25.539165Z", "disease_sub_group": "", "relevant_disorders": [ "R363" ], "signed_off": "2020-03-04" }, { "id": 524, "name": "Inherited pancreatic cancer", "stats": { "number_of_strs": 0, "number_of_genes": 12, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2022-11-30T14:42:27.618651Z", "disease_sub_group": "", "relevant_disorders": [ "R367" ], "signed_off": "2022-11-30" }, { "id": 525, "name": "Inherited predisposition to acute myeloid leukaemia (AML)", "stats": { "number_of_strs": 0, "number_of_genes": 16, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:43:30.275004Z", "disease_sub_group": "", "relevant_disorders": [ "R347" ], "signed_off": "2023-03-22" }, { "id": 526, "name": "Neuronal ceroid lipofuscinosis", "stats": { "number_of_strs": 0, "number_of_genes": 14, "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 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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-03-22T16:33:35.111827Z", "disease_sub_group": "", "relevant_disorders": [ "R231" ], "signed_off": "2023-03-22" }, { "id": 527, "name": "Familial chylomicronaemia syndrome (FCS)", "stats": { "number_of_strs": 0, "number_of_genes": 10, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:39:33.300167Z", "disease_sub_group": "", "relevant_disorders": [ "Lipoprotein lipase deficiency", "R324" ], "signed_off": "2023-03-22" }, { "id": 528, "name": "Glycogen storage disease", "stats": { "number_of_strs": 0, "number_of_genes": 29, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-03-22T16:57:13.260503Z", "disease_sub_group": "", "relevant_disorders": [ "R274" ], "signed_off": "2023-03-22" }, { "id": 529, "name": "Lysosomal storage disorder", "stats": { "number_of_strs": 0, "number_of_genes": 56, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:58:56.682678Z", "disease_sub_group": "", "relevant_disorders": [ "R276" ], "signed_off": "2023-03-22" }, { "id": 530, "name": "Leber hereditary optic neuropathy", "stats": { "number_of_strs": 0, "number_of_genes": 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." } ], "status": "public", "hash_id": null, "version": "2.5", "disease_group": "", "version_created": "2023-03-22T11:41:22.741726Z", "disease_sub_group": "", "relevant_disorders": [ "R41.3", "R42.1" ], "signed_off": "2023-03-22" }, { "id": 531, "name": "Pyruvate dehydrogenase (PDH) deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 26, "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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-02-17T15:26:12.923016Z", "disease_sub_group": "", "relevant_disorders": [ "R316" ], "signed_off": "2020-02-17" }, { "id": 532, "name": "Mitochondrial liver disease, including transient infantile liver failure", "stats": { "number_of_strs": 0, "number_of_genes": 11, "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." } ], "status": "public", "hash_id": null, "version": "1.9", "disease_group": "", "version_created": "2023-03-22T11:47:10.599169Z", "disease_sub_group": "", "relevant_disorders": [ "Mitochondrial liver disease", "R317" ], "signed_off": "2023-03-22" }, { "id": 533, "name": "Mitochondrial DNA maintenance disorder", "stats": { "number_of_strs": 0, "number_of_genes": 28, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T14:51:56.851642Z", "disease_sub_group": "", "relevant_disorders": [ "R352" ], "signed_off": "2023-03-22" }, { "id": 534, "name": "Mitochondrial disorder with complex I deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 51, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:28:58.706236Z", "disease_sub_group": "", "relevant_disorders": [ "R353" ], "signed_off": "2023-03-22" }, { "id": 535, "name": "Mitochondrial disorder with complex II deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 8, "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." } ], "status": "public", "hash_id": null, "version": "2.2", "disease_group": "", "version_created": "2023-03-22T18:06:57.005089Z", "disease_sub_group": "", "relevant_disorders": [ "R354" ], "signed_off": "2023-03-22" }, { "id": 536, "name": "Mitochondrial disorder with complex III deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 15, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-03-22T14:37:37.401562Z", "disease_sub_group": "", "relevant_disorders": [ "R355" ], "signed_off": "2023-03-22" }, { "id": 537, "name": "Mitochondrial disorder with complex IV deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 41, "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." } ], "status": "public", "hash_id": null, "version": "3.20", "disease_group": "", "version_created": "2024-04-09T15:06:18.220449Z", "disease_sub_group": "", "relevant_disorders": [ "R356" ], "signed_off": "2024-05-01" }, { "id": 538, "name": "Mitochondrial disorder with complex V deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 19, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-03-22T14:48:49.755980Z", "disease_sub_group": "", "relevant_disorders": [ "R357" ], "signed_off": "2023-03-22" }, { "id": 539, "name": "Possible mitochondrial disorder - nuclear genes", "stats": { "number_of_strs": 0, "number_of_genes": 381, "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." } ], "status": "public", "hash_id": null, "version": "3.105", "disease_group": "", "version_created": "2024-04-12T22:10:12.163485Z", "disease_sub_group": "", "relevant_disorders": [ "R63" ], "signed_off": "2024-05-01" }, { "id": 540, "name": "Adult onset dystonia, chorea or related movement disorder", "stats": { "number_of_strs": 11, "number_of_genes": 206, "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." } ], "status": "public", "hash_id": null, "version": "3.12", "disease_group": "", "version_created": "2023-07-31T13:49:18.439644Z", "disease_sub_group": "", "relevant_disorders": [ "Adult onset movement disorder", "R56" ], "signed_off": "2023-07-31" }, { "id": 541, "name": "Paroxysmal central nervous system disorders", "stats": { "number_of_strs": 5, "number_of_genes": 85, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:19:02.787051Z", "disease_sub_group": "", "relevant_disorders": [ "Paroxysmal neurological disorders", "pain disorders and sleep disorders", "R66" ], "signed_off": "2023-03-22" }, { "id": 542, "name": "Skeletal muscle channelopathy", "stats": { "number_of_strs": 2, "number_of_genes": 17, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:25:13.046349Z", "disease_sub_group": "", "relevant_disorders": [ "R76", "Myotonia congenita" ], "signed_off": "2023-03-22" }, { "id": 543, "name": "Bardet Biedl syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 24, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2022-11-30T14:37:40.174926Z", "disease_sub_group": "", "relevant_disorders": [ "R107" ], "signed_off": "2022-11-30" }, { "id": 544, "name": "Cholestasis", "stats": { "number_of_strs": 0, "number_of_genes": 78, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T17:15:19.623590Z", "disease_sub_group": "", "relevant_disorders": [ "R171" ], "signed_off": "2023-03-22" }, { "id": 545, "name": "Bleeding and platelet disorders", "stats": { "number_of_strs": 0, "number_of_genes": 116, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:38:51.455797Z", "disease_sub_group": "", "relevant_disorders": [ "R90" ], "signed_off": "2023-03-22" }, { "id": 546, "name": "Lipodystrophy - childhood onset", "stats": { "number_of_strs": 0, "number_of_genes": 20, "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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "", "version_created": "2023-03-22T17:07:41.424227Z", "disease_sub_group": "", "relevant_disorders": [ "R158" ], "signed_off": "2023-03-22" }, { "id": 548, "name": "Tubulointerstitial kidney disease", "stats": { "number_of_strs": 0, "number_of_genes": 25, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:56:30.194626Z", "disease_sub_group": "", "relevant_disorders": [ "R202" ], "signed_off": "2023-03-22" }, { "id": 549, "name": "Laterality disorders and isomerism", "stats": { "number_of_strs": 0, "number_of_genes": 65, "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 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." } ], "status": "public", "hash_id": null, "version": "3.9", "disease_group": "", "version_created": "2024-04-09T15:06:19.095270Z", "disease_sub_group": "", "relevant_disorders": [ "R139" ], "signed_off": "2024-05-01" }, { "id": 550, "name": "Respiratory ciliopathies including non-CF bronchiectasis", "stats": { "number_of_strs": 0, "number_of_genes": 77, "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 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." } ], "status": "public", "hash_id": null, "version": "3.10", "disease_group": "", "version_created": "2024-04-09T15:06:18.965679Z", "disease_sub_group": "", "relevant_disorders": [ "R189" ], "signed_off": "2024-05-01" }, { "id": 551, "name": "Surfactant deficiency", "stats": { "number_of_strs": 0, "number_of_genes": 8, "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 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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-03-02T16:37:09.606090Z", "disease_sub_group": "", "relevant_disorders": [ "R192" ], "signed_off": "2020-03-02" }, { "id": 552, "name": "Familial tumoral calcinosis", "stats": { "number_of_strs": 0, "number_of_genes": 4, "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 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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-02-19T10:22:53.834649Z", "disease_sub_group": "", "relevant_disorders": [ "R162" ], "signed_off": "2020-02-19" }, { "id": 553, "name": "Ectodermal dysplasia", "stats": { "number_of_strs": 0, "number_of_genes": 79, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:26:05.613140Z", "disease_sub_group": "", "relevant_disorders": [ "R163" ], "signed_off": "2023-03-22" }, { "id": 554, "name": "Epidermolysis bullosa and congenital skin fragility", "stats": { "number_of_strs": 0, "number_of_genes": 47, "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 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." } ], "status": "public", "hash_id": null, "version": "2.2", "disease_group": "", "version_created": "2023-03-22T17:14:02.832215Z", "disease_sub_group": "", "relevant_disorders": [ "R164" ], "signed_off": "2023-03-22" }, { "id": 555, "name": "Ichthyosis and erythrokeratoderma", "stats": { "number_of_strs": 0, "number_of_genes": 71, "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." } ], "status": "public", "hash_id": null, "version": "3.2", "disease_group": "", "version_created": "2023-03-22T17:33:54.674476Z", "disease_sub_group": "", "relevant_disorders": [ "R165" ], "signed_off": "2023-03-22" }, { "id": 556, "name": "Palmoplantar keratodermas", "stats": { "number_of_strs": 0, "number_of_genes": 69, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:49:58.809723Z", "disease_sub_group": "", "relevant_disorders": [ "R166" ], "signed_off": "2023-03-22" }, { "id": 557, "name": "Autosomal recessive primary hypertrophic osteoarthropathy", "stats": { "number_of_strs": 0, "number_of_genes": 3, "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 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." } ], "status": "public", "hash_id": null, "version": "1.5", 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"number_of_genes": 130, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:52:53.477951Z", "disease_sub_group": "", "relevant_disorders": [ "R236" ], "signed_off": "2023-03-22" }, { "id": 560, "name": "Cutaneous photosensitivity with a likely genetic cause", "stats": { "number_of_strs": 0, "number_of_genes": 12, "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 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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T16:24:05.754776Z", "disease_sub_group": "", "relevant_disorders": [ "R237" ], "signed_off": "2023-03-22" }, { "id": 562, "name": "Epidermodysplasia verruciformis", "stats": { "number_of_strs": 0, "number_of_genes": 7, "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 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." } ], "status": "public", "hash_id": null, "version": "1.3", "disease_group": "", "version_created": "2020-02-19T11:56:47.016827Z", "disease_sub_group": "", "relevant_disorders": [ "R255" ], "signed_off": "2020-10-15" }, { "id": 563, "name": "Vascular skin disorders", "stats": { "number_of_strs": 0, "number_of_genes": 37, "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 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." } ], "status": "public", "hash_id": null, "version": "1.3", "disease_group": "", "version_created": "2020-02-19T12:00:17.301082Z", "disease_sub_group": "", "relevant_disorders": [ "R326" ], "signed_off": "2020-10-15" }, { "id": 564, "name": "Mosaic skin disorders - deep sequencing", "stats": { "number_of_strs": 0, "number_of_genes": 49, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2022-11-30T14:17:10.483301Z", "disease_sub_group": "", "relevant_disorders": [ "R327" ], "signed_off": "2022-11-30" }, { "id": 565, "name": "Rare genetic inflammatory skin disorders", "stats": { "number_of_strs": 0, "number_of_genes": 69, "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 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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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-02-19T13:42:54.345244Z", "disease_sub_group": "", "relevant_disorders": [ "R160" ], "signed_off": "2020-02-19" }, { "id": 567, "name": "Adult onset hereditary spastic paraplegia", "stats": { "number_of_strs": 10, "number_of_genes": 107, "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 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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." } ], "status": "public", "hash_id": null, "version": "5.0", "disease_group": "", "version_created": "2024-05-01T12:34:39.618784Z", "disease_sub_group": "", "relevant_disorders": [ "Hereditary spastic paraplegia - childhood onset", "R61" ], "signed_off": "2024-05-01" }, { "id": 579, "name": "Adult onset leukodystrophy", "stats": { "number_of_strs": 0, "number_of_genes": 98, "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 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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "", "version_created": "2024-05-01T12:37:41.248956Z", "disease_sub_group": "", "relevant_disorders": [ "White matter disorders - adult onset", "R62" ], "signed_off": "2024-05-01" }, { "id": 600, "name": "Rhabdoid tumour predisposition", "stats": { "number_of_strs": 0, "number_of_genes": 2, "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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-03-04T11:54:51.088859Z", "disease_sub_group": "", "relevant_disorders": [ "R358" ], "signed_off": "2020-03-04" }, { "id": 635, "name": "Inherited breast cancer and ovarian cancer", "stats": { "number_of_strs": 0, "number_of_genes": 7, "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." } ], "status": "public", "hash_id": null, "version": "2.5", "disease_group": "", "version_created": "2023-04-12T13:48:42.585078Z", "disease_sub_group": "", "relevant_disorders": [ "R208" ], "signed_off": "2023-04-12" }, { "id": 648, "name": "Endocrine neoplasia", "stats": { "number_of_strs": 0, "number_of_genes": 14, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:14:27.985842Z", "disease_sub_group": "", "relevant_disorders": [ "Endocrine neoplasms", "R217" ], "signed_off": "2023-03-22" }, { "id": 649, "name": "Inherited phaeochromocytoma and paraganglioma excluding NF1", "stats": { "number_of_strs": 0, "number_of_genes": 17, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2022-11-30T15:30:38.033319Z", "disease_sub_group": "", "relevant_disorders": [ "R223" ], "signed_off": "2022-11-30" }, { "id": 650, "name": "Hypogonadotropic hypogonadism (GMS)", "stats": { "number_of_strs": 0, "number_of_genes": 45, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:25:42.008692Z", "disease_sub_group": "", "relevant_disorders": [ "Hypogonadotropic hypogonadism idiopathic", "R148" ], "signed_off": "2023-03-22" }, { "id": 652, "name": "Dilated and arrhythmogenic cardiomyopathy", "stats": { "number_of_strs": 0, "number_of_genes": 63, "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 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." } ], "status": "public", "hash_id": null, "version": "2.23", "disease_group": "Cardiovascular disorders", "version_created": "2024-05-01T09:47:16.945182Z", "disease_sub_group": "Cardiomyopathy", "relevant_disorders": [ "Dilated cardiomyopathy - adult and teen", "R132" ], "signed_off": "2024-05-01" }, { "id": 653, "name": "Polycystic liver disease", "stats": { "number_of_strs": 0, "number_of_genes": 20, "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 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." } ], "status": "public", "hash_id": null, "version": "1.26", "disease_group": "", "version_created": "2023-03-22T13:19:38.923461Z", "disease_sub_group": "", "relevant_disorders": [ "Polycystic liver disease interim", "R173" ], "signed_off": "2023-03-22" }, { "id": 658, "name": "Corneal dystrophy", "stats": { "number_of_strs": 0, "number_of_genes": 23, "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 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." } ], "status": "public", "hash_id": null, "version": "3.2", "disease_group": "", "version_created": "2023-03-22T18:08:59.399660Z", "disease_sub_group": "", "relevant_disorders": [ "Corneal dystrophies", "R262" ], "signed_off": "2023-03-22" }, { "id": 678, "name": "Unexplained young onset end-stage renal disease", "stats": { "number_of_strs": 0, "number_of_genes": 302, "number_of_regions": 3 }, "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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "", "version_created": "2024-05-01T12:48:35.350821Z", "disease_sub_group": "", "relevant_disorders": [ "Unexplained paediatric onset end-stage renal disease", "R257" ], "signed_off": "2024-05-01" }, { "id": 700, "name": "Thoracic aortic aneurysm or dissection (GMS)", "stats": { "number_of_strs": 0, "number_of_genes": 68, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T14:57:05.125205Z", "disease_sub_group": "", "relevant_disorders": [ "Thoracic aortic aneurysm and dissection", "R125" ], "signed_off": "2023-03-22" }, { "id": 722, "name": "Ophthalmological ciliopathies", "stats": { "number_of_strs": 0, "number_of_genes": 93, "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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "", "version_created": "2024-05-01T12:43:02.564382Z", "disease_sub_group": "", "relevant_disorders": [], "signed_off": "2024-05-01" }, { "id": 724, "name": "Neurological ciliopathies", "stats": { "number_of_strs": 0, "number_of_genes": 65, "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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "Ciliopathies", "version_created": "2024-05-01T12:42:48.340334Z", "disease_sub_group": "Congenital malformations caused by ciliopathies", "relevant_disorders": [], "signed_off": "2024-05-01" }, { "id": 725, "name": "Renal ciliopathies", "stats": { "number_of_strs": 0, "number_of_genes": 101, "number_of_regions": 2 }, "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." } ], "status": "public", "hash_id": null, "version": "3.5", "disease_group": "Ciliopathies", "version_created": "2024-04-03T11:19:29.290915Z", "disease_sub_group": "Congenital malformations caused by ciliopathies", "relevant_disorders": [], "signed_off": "2024-05-01" }, { "id": 726, "name": "Skeletal ciliopathies", "stats": { "number_of_strs": 0, "number_of_genes": 69, "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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "Ciliopathies", "version_created": "2024-05-01T12:41:31.263577Z", "disease_sub_group": "Congenital malformations caused by ciliopathies", "relevant_disorders": [], "signed_off": "2024-05-01" }, { "id": 728, "name": "Rare multisystem ciliopathy Super panel", "stats": { "number_of_strs": 0, "number_of_genes": 328, "number_of_regions": 2 }, "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ], "status": "public", "hash_id": null, "version": "15.2", "disease_group": "", "version_created": "2024-05-01T12:44:16.688354Z", "disease_sub_group": "", "relevant_disorders": [], "signed_off": "2024-05-01" }, { "id": 734, "name": "Sarcoma susceptibility", "stats": { "number_of_strs": 0, "number_of_genes": 42, "number_of_regions": 0 }, "types": [ { "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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "", "version_created": "2020-02-18T16:47:10.133321Z", "disease_sub_group": "", "relevant_disorders": [], "signed_off": "2020-02-18" }, { "id": 736, "name": "Neurological segmental overgrowth", "stats": { "number_of_strs": 0, "number_of_genes": 13, "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." } ], "status": "public", "hash_id": null, "version": "2.12", "disease_group": "", "version_created": "2024-04-18T19:43:23.636409Z", "disease_sub_group": "", "relevant_disorders": [], "signed_off": "2024-05-01" }, { "id": 749, "name": "Paediatric or syndromic cardiomyopathy", "stats": { "number_of_strs": 0, "number_of_genes": 225, "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": "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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "", "version_created": "2024-05-01T12:32:13.157572Z", "disease_sub_group": "", "relevant_disorders": [ "Cardiomyopathies - including childhood onset", "R135" ], "signed_off": "2024-05-01" }, { "id": 772, "name": "Familial hypercholesterolaemia (GMS)", "stats": { "number_of_strs": 0, "number_of_genes": 6, "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 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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-03-22T15:00:19.033676Z", "disease_sub_group": "", "relevant_disorders": [ "Familial hypercholesterolaemia - targeted panel", "R134" ], "signed_off": "2023-03-22" }, { "id": 841, "name": "Sudden unexplained death or survivors of a cardiac event", "stats": { "number_of_strs": 1, "number_of_genes": 277, "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ], "status": "public", "hash_id": null, "version": "19.73", "disease_group": "", "version_created": "2024-05-01T12:54:25.383664Z", "disease_sub_group": "", "relevant_disorders": [ "Molecular autopsy", "Sudden cardiac death", "Sudden cardiac death PILOT", "R138", "R425" ], "signed_off": "2024-05-01" }, { "id": 842, "name": "Cardiac arrhythmias", "stats": { "number_of_strs": 0, "number_of_genes": 100, "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ], "status": "public", "hash_id": null, "version": "13.4", "disease_group": "", "version_created": "2023-03-22T15:37:26.824784Z", "disease_sub_group": "", "relevant_disorders": [ "Cardiac arrythmias" ], "signed_off": "2023-03-22" }, { "id": 843, "name": "Cardiac arrhythmias - additional genes", "stats": { "number_of_strs": 0, "number_of_genes": 4, "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." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:12:10.482561Z", "disease_sub_group": "", "relevant_disorders": [], "signed_off": "2023-03-22" }, { "id": 846, "name": "Hereditary neuropathy or pain disorder", "stats": { "number_of_strs": 1, "number_of_genes": 312, "number_of_regions": 2 }, "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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "", "version_created": "2024-05-01T12:39:02.858478Z", "disease_sub_group": "", "relevant_disorders": [ "Hereditary neuropathy NOT PMP22 copy number", "Hereditary neuropathy or pain disorder - NOT PMP22 copy number", "R78" ], "signed_off": "2024-05-01" }, { "id": 847, "name": "Childhood onset dystonia, chorea or related movement disorder", "stats": { "number_of_strs": 5, "number_of_genes": 976, "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 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." } ], "status": "public", "hash_id": null, "version": "4.0", "disease_group": "", "version_created": "2024-05-01T12:40:45.325394Z", "disease_sub_group": "", "relevant_disorders": [ "Childhood onset dystonia or chorea or related movement disorder", "R57" ], "signed_off": "2024-05-01" }, { "id": 943, "name": "Osteopetrosis", "stats": { "number_of_strs": 0, "number_of_genes": 20, "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." } ], "status": "public", "hash_id": null, "version": "1.1", "disease_group": "Skeletal disorders", "version_created": "2020-09-21T14:20:24.806514Z", "disease_sub_group": "Skeletal dysplasias", "relevant_disorders": [ "R104.4" ], "signed_off": "2020-09-21" }, { "id": 945, "name": "Thrombocythaemia", "stats": { "number_of_strs": 0, "number_of_genes": 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." } ], "status": "public", "hash_id": null, "version": "1.1", "disease_group": "Haematological disorders", "version_created": "2020-09-30T10:12:52.541874Z", "disease_sub_group": "Haemostasis disorders", "relevant_disorders": [ "R406" ], "signed_off": "2020-09-30" }, { "id": 1075, "name": "Autoinflammatory disorders", "stats": { "number_of_strs": 0, "number_of_genes": 29, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "Haematological disorders", "version_created": "2024-05-01T12:50:04.245102Z", "disease_sub_group": "Primary immunodeficiency disorders", "relevant_disorders": [ "R413" ], "signed_off": "2024-05-01" }, { "id": 1076, "name": "Malignant hyperthermia", "stats": { "number_of_strs": 0, "number_of_genes": 3, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2022-11-30T14:56:33.228334Z", "disease_sub_group": "", "relevant_disorders": [ "R371" ], "signed_off": "2022-11-30" }, { "id": 1108, "name": "Wilms tumour with features suggestive of predisposition", "stats": { "number_of_strs": 0, "number_of_genes": 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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2022-11-30T14:50:12.149715Z", "disease_sub_group": "", "relevant_disorders": [ "R220" ], "signed_off": "2022-11-30" }, { "id": 1109, "name": "Multi locus imprinting disorders", "stats": { "number_of_strs": 0, "number_of_genes": 7, "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." } ], "status": "public", "hash_id": null, "version": "1.2", "disease_group": "Endocrinology", "version_created": "2023-03-22T12:06:34.203570Z", "disease_sub_group": "", "relevant_disorders": [ "R417.2" ], "signed_off": "2023-03-22" }, { "id": 1141, "name": "Acute rhabdomyolysis", "stats": { "number_of_strs": 0, "number_of_genes": 65, "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 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." } ], "status": "public", "hash_id": null, "version": "1.7", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2023-05-30T14:34:47.010314Z", "disease_sub_group": "Neuromuscular disorders", "relevant_disorders": [ "R419" ], "signed_off": "2023-05-31" }, { "id": 1174, "name": "Pulmonary fibrosis familial", "stats": { "number_of_strs": 0, "number_of_genes": 27, "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." } ], "status": "public", "hash_id": null, "version": "1.3", "disease_group": "Respiratory disorders", "version_created": "2022-11-30T16:50:58.219861Z", "disease_sub_group": "Interstitial lung disorders", "relevant_disorders": [ "R421" ], "signed_off": "2022-11-30" }, { "id": 1207, "name": "Acute intermittent porphyria", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T12:45:35.911567Z", "disease_sub_group": "", "relevant_disorders": [ "R169" ], "signed_off": "2023-09-14" }, { "id": 1208, "name": "Agammaglobulinaemia with absent BTK expression", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T12:48:13.304161Z", "disease_sub_group": "", "relevant_disorders": [ "R233" ], "signed_off": "2023-09-14" }, { "id": 1209, "name": "Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis", "stats": { "number_of_strs": 0, "number_of_genes": 3, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T12:50:32.587408Z", "disease_sub_group": "", "relevant_disorders": [ "R293" ], "signed_off": "2023-09-14" }, { "id": 1210, "name": "Alstrom syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T12:52:54.743180Z", "disease_sub_group": "", "relevant_disorders": [ "R106" ], "signed_off": "2023-09-14" }, { "id": 1211, "name": "Alveolar capillary dysplasia with misalignment of pulmonary veins", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T12:54:50.343682Z", "disease_sub_group": "", "relevant_disorders": [ "R330" ], "signed_off": "2023-09-14" }, { "id": 1212, "name": "APC associated Polyposis", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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 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"signed_off": "2023-09-14" }, { "id": 1214, "name": "Autoimmune lymphoproliferative syndrome with defective apoptosis", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T13:01:40.077453Z", "disease_sub_group": "", "relevant_disorders": [ "R19" ], "signed_off": "2023-09-14" }, { "id": 1215, "name": "Autoimmune Polyendocrine Syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T13:03:22.230805Z", "disease_sub_group": "", "relevant_disorders": [ "R155" ], "signed_off": "2023-09-14" }, { "id": 1216, "name": "BAP1 associated tumour predisposition syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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 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[ "R438" ], "signed_off": "2023-03-22" }, { "id": 1220, "name": "Unexplained death in infancy and sudden unexplained death in childhood", "stats": { "number_of_strs": 6, "number_of_genes": 2264, "number_of_regions": 19 }, "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ], "status": "public", "hash_id": null, "version": "9.7", "disease_group": "", "version_created": "2024-05-01T12:54:28.471895Z", "disease_sub_group": "", "relevant_disorders": [ "R441" ], "signed_off": "2024-05-01" }, { "id": 1221, "name": "Hereditary diffuse gastric cancer", "stats": { "number_of_strs": 0, "number_of_genes": 2, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-12-20T14:32:47.022819Z", "disease_sub_group": "", "relevant_disorders": [ "CDH1-related cancer syndrome", "R215" ], "signed_off": "2023-12-20" }, { "id": 1222, "name": "Li Fraumeni Syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 2, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-03-22T16:20:45.964942Z", "disease_sub_group": "", "relevant_disorders": [ "R216" ], "signed_off": "2023-03-22" }, { "id": 1223, "name": "Inherited prostate cancer", "stats": { "number_of_strs": 0, "number_of_genes": 8, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-03-22T16:06:25.974031Z", "disease_sub_group": "", "relevant_disorders": [ "R430" ], "signed_off": "2023-03-22" }, { "id": 1225, "name": "Hereditary isolated diabetes insipidus", "stats": { "number_of_strs": 0, "number_of_genes": 4, "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." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-12-20T14:35:15.793782Z", "disease_sub_group": "", "relevant_disorders": [ "Neuropophyseal diabetes insipidus", "R440" ], "signed_off": "2023-12-20" }, { "id": 1226, "name": "Hereditary alpha tryptasaemia", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-03-22T16:18:04.621876Z", "disease_sub_group": "", "relevant_disorders": [ "R436" ], "signed_off": "2023-03-22" }, { "id": 1308, "name": "Barth syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 1, "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." } ], "status": "public", "hash_id": null, "version": "1.0", "disease_group": "", "version_created": "2023-09-14T13:06:22.869097Z", "disease_sub_group": "", "relevant_disorders": [ "R391" ], "signed_off": "2023-09-14" } ] }