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=3
{ "count": 298, "next": null, "previous": "https://panelapp.genomicsengland.co.uk/api/v1/panels/signedoff/?format=api&page=2", "results": [ { "id": 1309, "name": "Beckwith-Wiedemann 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": "2023-09-14T13:07:37.695676Z", "disease_sub_group": "", "relevant_disorders": [ "R49.3" ], "signed_off": "2023-09-14" }, { "id": 1310, "name": "Blepharophimosis ptosis and epicanthus inversus", "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": "2023-09-14T13:08:58.632509Z", "disease_sub_group": "", "relevant_disorders": [ "R43" ], "signed_off": "2023-09-14" }, { "id": 1311, "name": "CADASIL", "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": "2023-09-14T13:10:20.637437Z", "disease_sub_group": "", "relevant_disorders": [ "R337" ], "signed_off": "2023-09-14" }, { "id": 1312, "name": "Calcium-sensing receptor phenotypes", "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": "2023-09-14T13:11:31.576480Z", "disease_sub_group": "", "relevant_disorders": [ "R319" ], "signed_off": "2023-09-14" }, { "id": 1313, "name": "Carney complex", "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": "2023-09-14T13:12:47.290946Z", "disease_sub_group": "", "relevant_disorders": [ "R156" ], "signed_off": "2023-09-14" }, { "id": 1314, "name": "Central congenital hypoventilation", "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": "2023-09-14T13:14:02.118320Z", "disease_sub_group": "", "relevant_disorders": [ "R333" ], "signed_off": "2023-09-14" }, { "id": 1315, "name": "Cleidocranial Dysplasia", "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": "2023-09-14T13:15:21.230765Z", "disease_sub_group": "", "relevant_disorders": [ "R415" ], "signed_off": "2023-09-14" }, { "id": 1316, "name": "Combined vitamin K-dependent clotting factor 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": "1.0", "disease_group": "", "version_created": "2023-09-14T13:16:31.342788Z", "disease_sub_group": "", "relevant_disorders": [ "R123" ], "signed_off": "2023-09-14" }, { "id": 1317, "name": "Congenital adrenal hyperplasia diagnostic test", "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": "2023-09-14T13:17:48.985656Z", "disease_sub_group": "", "relevant_disorders": [ "R180" ], "signed_off": "2023-09-14" }, { "id": 1318, "name": "Cystic fibrosis diagnostic test", "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": "2023-09-14T13:19:13.370327Z", "disease_sub_group": "", "relevant_disorders": [ "R184" ], "signed_off": "2023-09-14" }, { "id": 1319, "name": "Cystinosis", "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": "2023-09-14T13:20:31.918524Z", "disease_sub_group": "", "relevant_disorders": [ "R334" ], "signed_off": "2023-09-14" }, { "id": 1320, "name": "DICER1-related cancer predisposition", "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": "2023-09-14T13:22:15.139788Z", "disease_sub_group": "", "relevant_disorders": [ "R364" ], "signed_off": "2023-09-14" }, { "id": 1321, "name": "Duchenne or Becker muscular dystrophy", "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": "2023-09-14T13:24:08.222078Z", "disease_sub_group": "", "relevant_disorders": [ "R73" ], "signed_off": "2023-09-14" }, { "id": 1322, "name": "Elastin-related phenotypes", "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": "2023-09-14T13:25:29.422420Z", "disease_sub_group": "", "relevant_disorders": [ "R140" ], "signed_off": "2023-09-14" }, { "id": 1323, "name": "Fabry disease", "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": "2023-09-14T13:26:37.385573Z", "disease_sub_group": "", "relevant_disorders": [ "R335" ], "signed_off": "2023-09-14" }, { "id": 1324, "name": "Facioscapulohumeral muscular dystrophy - extended testing", "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": "2023-09-14T13:29:01.195304Z", "disease_sub_group": "", "relevant_disorders": [ "R345" ], "signed_off": "2023-09-14" }, { "id": 1325, "name": "Factor II deficiency", "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": "2023-09-14T13:30:33.757556Z", "disease_sub_group": "", "relevant_disorders": [ "R112" ], "signed_off": "2023-09-14" }, { "id": 1326, "name": "Factor IX deficiency", "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": "2023-09-14T12:45:56.459664Z", "disease_sub_group": "", "relevant_disorders": [ "R118" ], "signed_off": "2023-09-14" }, { "id": 1327, "name": "Factor V deficiency", "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": "2023-09-14T12:48:38.238566Z", "disease_sub_group": "", "relevant_disorders": [ "R115" ], "signed_off": "2023-09-14" }, { "id": 1328, "name": "Factor VII deficiency", "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": "2023-09-14T12:51:21.324324Z", "disease_sub_group": "", "relevant_disorders": [ "R116" ], "signed_off": "2023-09-14" }, { "id": 1329, "name": "Factor VIII deficiency", "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": "2023-09-14T12:53:42.694035Z", "disease_sub_group": "", "relevant_disorders": [ "R117" ], "signed_off": "2023-09-14" }, { "id": 1330, "name": "Factor X deficiency", "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": "2023-09-14T12:58:47.150047Z", "disease_sub_group": "", "relevant_disorders": [ "R119" ], "signed_off": "2023-09-14" }, { "id": 1331, "name": "Factor XI deficiency", "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": "2023-09-14T13:01:50.056909Z", "disease_sub_group": "", "relevant_disorders": [ "R120" ], "signed_off": "2023-09-14" }, { "id": 1332, "name": "Factor XIII 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": "1.0", "disease_group": "", "version_created": "2023-09-14T13:07:10.001119Z", "disease_sub_group": "", "relevant_disorders": [ "R122" ], "signed_off": "2023-09-14" }, { "id": 1333, "name": "Familial dysalbuminaemic hyperthyroxinaemia", "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": "2023-09-14T13:09:13.525944Z", "disease_sub_group": "", "relevant_disorders": [ "R329" ], "signed_off": "2023-09-14" }, { "id": 1334, "name": "Familial tumours of the nervous system", "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": "2.0", "disease_group": "", "version_created": "2023-12-20T14:37:08.977001Z", "disease_sub_group": "", "relevant_disorders": [ "R221" ], "signed_off": "2023-12-20" }, { "id": 1335, "name": "Fumarate hydratase-related tumour syndromes", "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": "2023-09-14T13:15:16.640741Z", "disease_sub_group": "", "relevant_disorders": [ "R365" ], "signed_off": "2023-09-14" }, { "id": 1336, "name": "Gaucher disease", "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": "2023-09-14T13:16:49.614118Z", "disease_sub_group": "", "relevant_disorders": [ "R272" ], "signed_off": "2023-09-14" }, { "id": 1337, "name": "Generalised arterial calcification in infancy", "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": "2023-09-14T13:18:34.048215Z", "disease_sub_group": "", "relevant_disorders": [ "R384" ], "signed_off": "2023-09-14" }, { "id": 1338, "name": "Glucokinase-related fasting hyperglycaemia", "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": "2023-09-14T13:19:50.937886Z", "disease_sub_group": "", "relevant_disorders": [ "R142" ], "signed_off": "2023-09-14" }, { "id": 1339, "name": "Glutaric acidaemia I", "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": "2023-09-14T13:21:06.141974Z", "disease_sub_group": "", "relevant_disorders": [ "R275" ], "signed_off": "2023-09-14" }, { "id": 1340, "name": "Glycogen storage disease V", "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": "2023-09-14T13:23:44.865022Z", "disease_sub_group": "", "relevant_disorders": [ "R273" ], "signed_off": "2023-09-14" }, { "id": 1341, "name": "GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB", "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": "2023-09-14T13:25:16.653382Z", "disease_sub_group": "", "relevant_disorders": [ "R288" ], "signed_off": "2023-09-14" }, { "id": 1342, "name": "Haemoglobinopathy trait or carrier testing", "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": "2023-09-14T13:26:40.650794Z", "disease_sub_group": "", "relevant_disorders": [ "R361" ], "signed_off": "2023-09-14" }, { "id": 1343, "name": "Haemophagocytic syndrome with absent perforin 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": "2023-09-14T13:28:05.972103Z", "disease_sub_group": "", "relevant_disorders": [ "R232" ], "signed_off": "2023-09-14" }, { "id": 1344, "name": "Haemophagocytic syndrome with absent XIAP 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": "2023-09-14T13:29:49.474254Z", "disease_sub_group": "", "relevant_disorders": [ "R18" ], "signed_off": "2023-09-14" }, { "id": 1345, "name": "Hereditary angioedema types I and II", "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": "2023-09-14T13:31:30.064194Z", "disease_sub_group": "", "relevant_disorders": [ "R341" ], "signed_off": "2023-09-14" }, { "id": 1346, "name": "Hirschsprung disease", "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": "2023-09-14T13:32:58.245774Z", "disease_sub_group": "", "relevant_disorders": [ "R177" ], "signed_off": "2023-09-14" }, { "id": 1347, "name": "Incontinentia pigmenti", "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": "2023-09-14T13:35:06.442331Z", "disease_sub_group": "", "relevant_disorders": [ "R239" ], "signed_off": "2023-09-14" }, { "id": 1348, "name": "Inherited parathyroid cancer", "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": "2023-09-14T13:36:27.065281Z", "disease_sub_group": "", "relevant_disorders": [ "R226" ], "signed_off": "2023-09-14" }, { "id": 1349, "name": "Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)", "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": "2023-09-14T13:38:04.865593Z", "disease_sub_group": "", "relevant_disorders": [ "R366" ], "signed_off": "2023-09-14" }, { "id": 1350, "name": "IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked", "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": "2023-09-14T13:40:11.722298Z", "disease_sub_group": "", "relevant_disorders": [ "R157" ], "signed_off": "2023-09-14" }, { "id": 1351, "name": "Krabbe disease - GALC deficiency", "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": "2023-09-14T13:41:48.581111Z", "disease_sub_group": "", "relevant_disorders": [ "R280" ], "signed_off": "2023-09-14" }, { "id": 1352, "name": "Krabbe disease - Saposin A deficiency", "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": "2023-09-14T13:43:19.397314Z", "disease_sub_group": "", "relevant_disorders": [ "R281" ], "signed_off": "2023-09-14" }, { "id": 1353, "name": "Lymphoproliferative syndrome with absent SAP 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": "2023-09-14T13:02:14.150458Z", "disease_sub_group": "", "relevant_disorders": [ "R17" ], "signed_off": "2023-09-14" }, { "id": 1354, "name": "Lysosomal acid lipase deficiency", "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": "2023-09-14T13:05:46.959201Z", "disease_sub_group": "", "relevant_disorders": [ "R325" ], "signed_off": "2023-09-14" }, { "id": 1355, "name": "MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing", "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": "2023-09-14T13:07:35.322771Z", "disease_sub_group": "", "relevant_disorders": [ "R403" ], "signed_off": "2023-09-14" }, { "id": 1356, "name": "Mitochondrial Complex V deficiency, TMEM70 type", "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": "2023-09-14T13:09:25.374573Z", "disease_sub_group": "", "relevant_disorders": [ "R396" ], "signed_off": "2023-09-14" }, { "id": 1357, "name": "Mitochondrial neurogastrointestinal encephalopathy", "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": "2023-09-14T13:11:07.456840Z", "disease_sub_group": "", "relevant_disorders": [ "R394" ], "signed_off": "2023-09-14" }, { "id": 1358, "name": "Monitoring for G(M)CSF escape mutations", "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": "2023-09-14T13:12:45.513269Z", "disease_sub_group": "", "relevant_disorders": [ "R338" ], "signed_off": "2023-09-14" }, { "id": 1359, "name": "Mucolipidosis II and III Alpha or Beta", "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": "2023-09-14T13:14:23.280054Z", "disease_sub_group": "", "relevant_disorders": [ "R289", "Mucolipidosis II and III Alpha/Beta" ], "signed_off": "2023-09-14" }, { "id": 1360, "name": "Mucopolysaccharidosis type IH or S", "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": "2023-09-14T13:17:01.915879Z", "disease_sub_group": "", "relevant_disorders": [ "R277", "Mucopolysaccharidosis type IH/S" ], "signed_off": "2023-09-14" }, { "id": 1361, "name": "Mucopolysaccharidosis type II", "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": "2023-09-14T13:23:13.489051Z", "disease_sub_group": "", "relevant_disorders": [ "R278" ], "signed_off": "2023-09-14" }, { "id": 1362, "name": "Mucopolysaccharidosis type IIIA", "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": "2023-09-14T13:24:44.202933Z", "disease_sub_group": "", "relevant_disorders": [ "R291" ], "signed_off": "2023-09-14" }, { "id": 1363, "name": "Mucopolysaccharidosis type IIIB", "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": "2023-09-14T13:26:56.677228Z", "disease_sub_group": "", "relevant_disorders": [ "R292" ], "signed_off": "2023-09-14" }, { "id": 1364, "name": "Mucopolysaccharidosis type IVA", "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": "2023-09-14T13:28:28.066907Z", "disease_sub_group": "", "relevant_disorders": [ "R287" ], "signed_off": "2023-09-14" }, { "id": 1365, "name": "Mucopolysaccharidosis type VI", "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": "2023-09-14T13:30:29.715814Z", "disease_sub_group": "", "relevant_disorders": [ "R290" ], "signed_off": "2023-09-14" }, { "id": 1366, "name": "Multiple endocrine neoplasia type 2", "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": "2023-09-14T13:32:14.135850Z", "disease_sub_group": "", "relevant_disorders": [ "R218" ], "signed_off": "2023-09-14" }, { "id": 1367, "name": "Multiple exostoses", "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": "2023-09-14T13:33:59.887870Z", "disease_sub_group": "", "relevant_disorders": [ "R390" ], "signed_off": "2023-09-14" }, { "id": 1368, "name": "NARP syndrome or maternally inherited Leigh 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": "2023-09-14T13:36:57.106337Z", "disease_sub_group": "", "relevant_disorders": [ "R351" ], "signed_off": "2023-09-14" }, { "id": 1369, "name": "Neonatal diabetes - small panel", "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": "2023-09-26T13:07:04.972499Z", "disease_sub_group": "", "relevant_disorders": [ "R143.1", "Neonatal diabetes" ], "signed_off": "2023-09-26" }, { "id": 1370, "name": "Neurofibromatosis type 1 (GMS)", "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": "2023-09-14T13:40:16.301109Z", "disease_sub_group": "", "relevant_disorders": [ "R222" ], "signed_off": "2023-09-14" }, { "id": 1371, "name": "Neuronal ceroid lipofuscinosis type 2", "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": "2023-09-14T13:41:26.658943Z", "disease_sub_group": "", "relevant_disorders": [ "R271" ], "signed_off": "2023-09-14" }, { "id": 1372, "name": "Neutropaenia consistent with ELANE mutations", "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": "2023-09-14T13:42:51.100156Z", "disease_sub_group": "", "relevant_disorders": [ "R313" ], "signed_off": "2023-09-14" }, { "id": 1373, "name": "Nevoid Basal Cell Carcinoma Syndrome or Gorlin 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": "2023-09-14T13:44:12.238947Z", "disease_sub_group": "", "relevant_disorders": [ "R214" ], "signed_off": "2023-09-14" }, { "id": 1374, "name": "Niemann Pick disease type C", "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": "2023-09-14T13:45:55.586371Z", "disease_sub_group": "", "relevant_disorders": [ "R380" ], "signed_off": "2023-09-14" }, { "id": 1375, "name": "Niemann-Pick disease type A or B", "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": "2023-09-14T13:47:17.222494Z", "disease_sub_group": "", "relevant_disorders": [ "R282" ], "signed_off": "2023-09-14" }, { "id": 1376, "name": "Nijmegen breakage 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": "2023-09-14T13:48:53.642280Z", "disease_sub_group": "", "relevant_disorders": [ "R259.2" ], "signed_off": "2023-09-14" }, { "id": 1377, "name": "Peutz Jeghers 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": "2023-09-14T13:50:24.959951Z", "disease_sub_group": "", "relevant_disorders": [ "R212" ], "signed_off": "2023-09-14" }, { "id": 1378, "name": "Phenylketonuria", "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": "2023-09-14T13:51:50.179388Z", "disease_sub_group": "", "relevant_disorders": [ "R283" ], "signed_off": "2023-09-14" }, { "id": 1379, "name": "POLG-related disorder", "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": "2023-09-14T13:53:27.056925Z", "disease_sub_group": "", "relevant_disorders": [ "R315" ], "signed_off": "2023-09-14" }, { "id": 1380, "name": "Primary hyperaldosteronism - KCNJ5", "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": "2023-09-14T12:45:11.046333Z", "disease_sub_group": "", "relevant_disorders": [ "R344" ], "signed_off": "2023-09-14" }, { "id": 1381, "name": "Pseudoxanthoma elasticum", "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": "2023-09-14T12:47:25.618792Z", "disease_sub_group": "", "relevant_disorders": [ "R420" ], "signed_off": "2023-09-14" }, { "id": 1382, "name": "PTEN Hamartoma Tumor 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": "2023-09-14T12:48:49.268422Z", "disease_sub_group": "", "relevant_disorders": [ "R213" ], "signed_off": "2023-09-14" }, { "id": 1383, "name": "Pulmonary alveolar microlithiasis", "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": "2023-09-14T12:50:21.122880Z", "disease_sub_group": "", "relevant_disorders": [ "R426" ], "signed_off": "2023-09-14" }, { "id": 1384, "name": "Retinoblastoma", "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": "2023-09-14T12:51:17.024593Z", "disease_sub_group": "", "relevant_disorders": [ "R219" ], "signed_off": "2023-09-14" }, { "id": 1385, "name": "Sandhoff disease", "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": "2023-09-14T12:52:08.889523Z", "disease_sub_group": "", "relevant_disorders": [ "R285" ], "signed_off": "2023-09-14" }, { "id": 1386, "name": "SCID with features of gamma chain deficiency", "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": "2023-09-14T12:52:51.139359Z", "disease_sub_group": "", "relevant_disorders": [ "R235" ], "signed_off": "2023-09-14" }, { "id": 1387, "name": "Segmental or atypical neurofibromatosis type 1 testing", "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": "2023-09-14T12:53:36.933988Z", "disease_sub_group": "", "relevant_disorders": [ "R376" ], "signed_off": "2023-09-14" }, { "id": 1388, "name": "Severe combined immunodeficiency with adenosine deaminase deficiency", "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": "2023-09-14T12:54:41.349100Z", "disease_sub_group": "", "relevant_disorders": [ "R16" ], "signed_off": "2023-09-14" }, { "id": 1389, "name": "Severe combined immunodeficiency with PNP deficiency", "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": "2023-09-14T12:55:32.919258Z", "disease_sub_group": "", "relevant_disorders": [ "R234" ], "signed_off": "2023-09-14" }, { "id": 1390, "name": "Short stature - SHOX deficiency", "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": "2023-09-14T12:56:19.708075Z", "disease_sub_group": "", "relevant_disorders": [ "R52" ], "signed_off": "2023-09-14" }, { "id": 1391, "name": "Sitosterolaemia", "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": "2023-09-14T12:58:08.004086Z", "disease_sub_group": "", "relevant_disorders": [ "R323" ], "signed_off": "2023-09-14" }, { "id": 1392, "name": "Smith-Lemli-Opitz 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": "2023-09-14T12:59:29.793543Z", "disease_sub_group": "", "relevant_disorders": [ "R270" ], "signed_off": "2023-09-14" }, { "id": 1393, "name": "Spinal muscular atrophy type 1 rare mutation testing", "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": "2023-09-14T13:01:33.339468Z", "disease_sub_group": "", "relevant_disorders": [ "R71" ], "signed_off": "2023-09-14" }, { "id": 1394, "name": "Subcutaneous panniculitis T-cell lymphoma (SPTCL)", "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": "2023-09-14T13:02:45.343131Z", "disease_sub_group": "", "relevant_disorders": [ "R424" ], "signed_off": "2023-09-14" }, { "id": 1395, "name": "Syndromic and non syndromic craniosynostosis involving midline sutures", "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": "2023-09-14T13:03:36.161928Z", "disease_sub_group": "", "relevant_disorders": [ "R416" ], "signed_off": "2023-09-14" }, { "id": 1396, "name": "Tay-Sachs disease", "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", 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"version_created": "2023-09-14T13:06:30.900356Z", "disease_sub_group": "", "relevant_disorders": [ "R93" ], "signed_off": "2023-09-14" }, { "id": 1398, "name": "Thanatophoric dysplasia", "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": "2023-09-14T13:08:57.748512Z", "disease_sub_group": "", "relevant_disorders": [ "R25" ], "signed_off": "2023-09-14" }, { "id": 1399, "name": "Thiamine metabolism dysfunction syndrome 2", "stats": { "number_of_strs": 0, "number_of_genes": 1, 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1406, "name": "Wiskott-Aldrich 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": "2023-09-14T13:30:47.600965Z", "disease_sub_group": "", "relevant_disorders": [ "R20" ], "signed_off": "2023-09-14" } ] }