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/
{ "count": 176, "next": "https://panelapp.genomicsengland.co.uk/api/v1/panels/signedoff/?page=2", "previous": null, "results": [ { "id": 3, "name": "Stickler syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 10, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "554a0ac9bb5a167e4ccd1ec1", "version": "2.2", "disease_group": "Skeletal disorders", "version_created": "2020-02-19T17:01:27.308832Z", "disease_sub_group": "Skeletal dysplasias", "relevant_disorders": [ "R45" ], "signed_off": "2020-02-19" }, { "id": 9, "name": "Disorders of sex development", "stats": { "number_of_strs": 0, "number_of_genes": 54, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "569380ac22c1fc251660faf8", "version": "2.2", "disease_group": "Endocrine disorders", "version_created": "2020-03-03T12:20:10.390542Z", "disease_sub_group": "Gonadal and sex development disorders", "relevant_disorders": [ "R146" ], "signed_off": "2020-03-03" }, { "id": 13, "name": "Brugada syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 23, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "55a3a78122c1fc6711b0c6b5", "version": "2.4", "disease_group": "Cardiovascular disorders", "version_created": "2020-08-20T14:01:56.329149Z", "disease_sub_group": "Cardiac arrhythmia", "relevant_disorders": [ "R128" ], "signed_off": "2020-08-20" }, { "id": 25, "name": "Congenital disorders of glycosylation", "stats": { "number_of_strs": 0, "number_of_genes": 101, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "58346b8b8f62036225ca8a7d", "version": "2.4", "disease_group": "Metabolic disorders", "version_created": "2020-03-04T11:41:34.093194Z", "disease_sub_group": "Specific metabolic abnormalities", "relevant_disorders": [ "Congential disorders of glycosylation" ], "signed_off": "2020-03-04" }, { "id": 31, "name": "Congenital hypothyroidism", "stats": { "number_of_strs": 0, "number_of_genes": 34, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "5763f2938f620350a1996046", "version": "2.2", "disease_group": "Endocrine disorders", "version_created": "2020-02-25T10:03:00.850654Z", "disease_sub_group": "Thyroid disorders", "relevant_disorders": [ "Congenital hypothyroidism or thyroid agenesis", "R145" ], "signed_off": "2020-02-25" }, { "id": 49, "name": "Hypertrophic cardiomyopathy - teen and adult", "stats": { "number_of_strs": 1, "number_of_genes": 73, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "55a39e2d22c1fc6711b0c6b3", "version": "2.11", "disease_group": "Cardiovascular disorders", "version_created": "2020-10-05T12:09:36.095392Z", "disease_sub_group": "Cardiomyopathy", "relevant_disorders": [ "Hypertrophic Cardiomyopathy", "HCM", "R131" ], "signed_off": "2020-10-15" }, { "id": 53, "name": "Ehlers Danlos syndromes", "stats": { "number_of_strs": 0, "number_of_genes": 75, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "588728f38f62030cf7152165", "version": "2.3", "disease_group": "Rheumatological disorders", "version_created": "2020-03-04T10:44:17.215550Z", "disease_sub_group": "Connective tissues disorders", "relevant_disorders": [ "Classical Ehlers Danlos Syndrome", "Classical Ehlers-Danlos Syndrome", "Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)", "Ehlers-Danlos syndrome type 3", "Kyphoscoliotic Ehlers-Danlos syndrome", "EDS", "Ehlers-Danlos syndromes", "R101" ], "signed_off": "2020-03-04" }, { "id": 55, "name": "Breast cancer pertinent cancer susceptibility", "stats": { "number_of_strs": 0, "number_of_genes": 5, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline 100K", "slug": "cancer-germline-100k", "description": "Cancer Germline 100K" }, { "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": "596f82e88f620352d0e3eeb1", "version": "1.1", "disease_group": "Cancer Programme", "version_created": "2021-09-29T12:10:57.942550Z", "disease_sub_group": "Pertinent cancer susceptibility gene panel", "relevant_disorders": [ "Breast" ], "signed_off": "2021-09-29" }, { "id": 59, "name": "Haematological malignancies cancer susceptibility", "stats": { "number_of_strs": 0, "number_of_genes": 93, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline 100K", "slug": "cancer-germline-100k", "description": "Cancer Germline 100K" }, { "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": "594a71908f620375d17ea6b2", "version": "2.2", "disease_group": "Cancer Programme", "version_created": "2020-02-18T16:54:44.912492Z", "disease_sub_group": "Pertinent cancer susceptibility gene panel", "relevant_disorders": [ "Haemonc", "Haematological malignancies pertinent cancer susceptibility" ], "signed_off": "2020-02-18" }, { "id": 65, "name": "Primary lymphoedema", "stats": { "number_of_strs": 0, "number_of_genes": 51, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "57ee82ef8f62035c9b2d0487", "version": "2.2", "disease_group": "Cardiovascular disorders", "version_created": "2020-03-02T17:15:08.563613Z", "disease_sub_group": "Lymphatic Disorders", "relevant_disorders": [ "Lymphatic Disorders", "Meiges disease", "Meige disease", "Milroy disease", "Lymphoedema distichiasis", "Lipoedema disease", "R136" ], "signed_off": "2020-03-02" }, { "id": 66, "name": "Rhabdomyolysis and metabolic muscle disorders", "stats": { "number_of_strs": 0, "number_of_genes": 55, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "55b63d7f22c1fc05fc7a185b", "version": "1.34", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2020-03-04T11:34:08.791006Z", "disease_sub_group": "Neuromuscular disorders", "relevant_disorders": [], "signed_off": "2020-03-04" }, { "id": 76, "name": "Long QT syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 22, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "55a3b19722c1fc6710839b80", "version": "2.20", "disease_group": "Cardiovascular disorders", "version_created": "2020-08-20T13:36:11.631827Z", "disease_sub_group": "Cardiac arrhythmia", "relevant_disorders": [ "Long QT", "R127" ], "signed_off": "2020-08-20" }, { "id": 77, "name": "Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 17, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "5811a8738f620323c5766a2b", "version": "2.7", "disease_group": "Dysmorphic and congenital abnormality syndromes", "version_created": "2020-03-04T13:48:55.737137Z", "disease_sub_group": "DNA repair disorders", "relevant_disorders": [ "Cockayne and Xeroderma Pigmentosum-like disorders", "Cockayne syndrome", "Xeroderma Pigmentosum-like disorders", "XP-like disorders", "R227" ], "signed_off": "2020-10-15" }, { "id": 78, "name": "Holoprosencephaly", "stats": { "number_of_strs": 0, "number_of_genes": 18, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "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": "568e87e022c1fc1c79ca1754", "version": "2.3", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2020-02-27T11:07:04.343607Z", "disease_sub_group": "Neurodevelopmental disorders", "relevant_disorders": [ "Rhombencephalosynapsis", "Holoprosencephaly - NOT chromosomal", "R85" ], "signed_off": "2020-02-27" }, { "id": 79, "name": "Paediatric motor neuronopathies", "stats": { "number_of_strs": 1, "number_of_genes": 39, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "5541ef3dbb5a160c33b964e0", "version": "1.30", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2020-03-04T11:38:48.713479Z", "disease_sub_group": "Motor and Sensory Disorders of the PNS", "relevant_disorders": [], "signed_off": "2020-03-04" }, { "id": 81, "name": "Clefting", "stats": { "number_of_strs": 0, "number_of_genes": 258, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "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": "57acb8268f620364dc61afd3", "version": "2.2", "disease_group": "Dysmorphic and congenital abnormality syndromes", "version_created": "2020-03-04T10:51:16.795277Z", "disease_sub_group": "Dysmorphic disorders", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "signed_off": "2020-03-04" }, { "id": 83, "name": "Membranoproliferative glomerulonephritis", "stats": { "number_of_strs": 0, "number_of_genes": 9, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "58c805938f6203413360f1cb", "version": "2.13", "disease_group": "Renal and urinary tract disorders", "version_created": "2020-10-16T08:11:21.462473Z", "disease_sub_group": "Syndromes with prominent renal abnormalities", "relevant_disorders": [ "PMG", "MPGN", "Primary Membranoproliferative Glomerulonephritis", "Primary membranoproliferative glomerulonephritis", "R197" ], "signed_off": "2020-10-16" }, { "id": 96, "name": "Malformations of cortical development", "stats": { "number_of_strs": 0, "number_of_genes": 74, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "568f8ba422c1fc1c79ca1774", "version": "2.2", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2019-12-11T15:50:50.912714Z", "disease_sub_group": "Neurodevelopmental disorders", "relevant_disorders": [], "signed_off": "2020-02-25" }, { "id": 98, "name": "Segmental overgrowth disorders", "stats": { "number_of_strs": 0, "number_of_genes": 14, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "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": "5763f2348f620350a1996043", "version": "2.1", "disease_group": "", "version_created": "2020-02-12T11:32:40.292867Z", "disease_sub_group": "", "relevant_disorders": [ "Regional overgrowth disorders", "R110" ], "signed_off": "2020-02-24" }, { "id": 99, "name": "Haematuria", "stats": { "number_of_strs": 0, "number_of_genes": 8, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "55e01bb222c1fc6199b42904", "version": "2.4", "disease_group": "Renal and urinary tract disorders", "version_created": "2020-03-04T11:49:24.820620Z", "disease_sub_group": "Syndromes with prominent renal abnormalities", "relevant_disorders": [ "Alport syndrome", "Familial haematuria", "R194" ], "signed_off": "2020-10-15" }, { "id": 105, "name": "Pneumothorax - familial", "stats": { "number_of_strs": 0, "number_of_genes": 35, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "572c908e8f62036eed0a39c8", "version": "2.17", "disease_group": "Respiratory disorders", "version_created": "2020-03-04T11:05:56.087944Z", "disease_sub_group": "Structural lung disorders", "relevant_disorders": [ "Familial Pneumothorax", "Familial Primary Spontaneous Pneumothorax", "R190" ], "signed_off": "2020-03-03" }, { "id": 106, "name": "Proteinuric renal disease", "stats": { "number_of_strs": 0, "number_of_genes": 100, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "55af787822c1fc78a829f89f", "version": "2.32", "disease_group": "Renal and urinary tract disorders", "version_created": "2020-10-16T08:06:29.016701Z", "disease_sub_group": "Syndromes with prominent renal abnormalities", "relevant_disorders": [ "R195" ], "signed_off": "2020-10-16" }, { "id": 112, "name": "Mitochondrial disorders", "stats": { "number_of_strs": 2, "number_of_genes": 467, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "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": "55928cf522c1fc4f7d26e960", "version": "2.4", "disease_group": "Metabolic disorders", "version_created": "2020-02-17T14:57:13.668354Z", "disease_sub_group": "Mitochondrial", "relevant_disorders": [ "Lactic acidosis", "All recognised syndromes and those with suggestive features" ], "signed_off": "2020-02-17" }, { "id": 117, "name": "Ovarian cancer pertinent cancer susceptibility", "stats": { "number_of_strs": 0, "number_of_genes": 9, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline 100K", "slug": "cancer-germline-100k", "description": "Cancer Germline 100K" }, { "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 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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": "5633857722c1fc582756e3d9", "version": "2.2", "disease_group": "Respiratory disorders", "version_created": "2020-03-02T16:56:58.249753Z", "disease_sub_group": "Vascular lung disorders", "relevant_disorders": [ "Familial and multiple pulmonary arteriovenous malformations", "R186" ], "signed_off": "2020-03-02" }, { "id": 126, "name": "Hearing loss", "stats": { "number_of_strs": 0, "number_of_genes": 375, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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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"Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "55d2fc2d22c1fc2cc6635960", "version": "2.2", "disease_group": "Endocrine disorders", "version_created": "2020-02-18T16:43:13.761962Z", "disease_sub_group": "Obesity syndromes", "relevant_disorders": [ "Significant early-onset obesity with or without 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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": "563248da22c1fc58285b283a", "version": "2.2", "disease_group": "Renal and urinary tract disorders", "version_created": "2020-02-13T11:31:11.314498Z", "disease_sub_group": "Syndromes with prominent renal abnormalities", "relevant_disorders": [ "R201" ], "signed_off": "2020-02-13" }, { "id": 143, "name": "Inherited ovarian cancer (without breast cancer)", "stats": { "number_of_strs": 0, "number_of_genes": 26, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "592843a08f6203468490fa68", "version": "2.2", "disease_group": "Tumour syndromes", "version_created": "2020-03-04T11:03:56.931040Z", "disease_sub_group": "Breast and endocrine", "relevant_disorders": [ "Familial ovarian cancer", "R207" ], "signed_off": "2020-03-04" }, { "id": 145, "name": "Congenital adrenal hypoplasia", "stats": { "number_of_strs": 0, "number_of_genes": 20, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This 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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": "5819a24f8f6203341de99c89", "version": "2.2", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2020-03-02T16:17:52.685534Z", "disease_sub_group": "Cerebrovascular disorders", "relevant_disorders": [ "Cerebrovascular disorders", "Vein of Galen malformation", "Cerebral arteriovenous malformations", "Moyamoya disease", "R336" ], "signed_off": "2020-03-02" }, { "id": 149, "name": "Nephrocalcinosis or nephrolithiasis", "stats": { "number_of_strs": 0, "number_of_genes": 45, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "553f94d5bb5a1616e5ed45a5", "version": "2.2", "disease_group": "Renal and urinary tract disorders", "version_created": "2020-02-13T11:37:37.422323Z", "disease_sub_group": "Disorders of function", "relevant_disorders": [ "Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)", "Renal tract calcification (or 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"Severe microcephaly", "stats": { "number_of_strs": 0, "number_of_genes": 122, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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": "568f860222c1fc1c79ca1769", "version": "2.2", "disease_group": "Dysmorphic and congenital abnormality syndromes", "version_created": "2020-03-02T16:10:33.095174Z", "disease_sub_group": "DNA repair disorders", "relevant_disorders": [ "Primary Microcephaly - Microcephalic Dwarfism Spectrum", "Severe 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"version": "2.4", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2020-03-02T16:01:02.033720Z", "disease_sub_group": "Neuromuscular disorders", "relevant_disorders": [ "R82" ], "signed_off": "2020-03-02" }, { "id": 186, "name": "Optic neuropathy", "stats": { "number_of_strs": 0, "number_of_genes": 48, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "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 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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": "9.41", "disease_group": "", "version_created": "2020-03-04T16:05:47.045355Z", "disease_sub_group": "", "relevant_disorders": [ "Floppy infant with a likely central cause", "Hypotonic infant with a likely central cause", "R69" ], "signed_off": "2020-03-04" }, { "id": 491, "name": "Cerebral malformations", "stats": { "number_of_strs": 0, "number_of_genes": 105, "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": "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": "5.17", "disease_group": "", "version_created": "2020-03-04T14:55:38.803634Z", "disease_sub_group": "", "relevant_disorders": [ "Cerebral malformation", "R87" ], "signed_off": "2020-03-04" }, { "id": 496, "name": "White matter disorders - childhood onset", "stats": { "number_of_strs": 15, "number_of_genes": 3892, "number_of_regions": 59 }, "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": "6.20", "disease_group": "", "version_created": "2020-03-04T14:59:08.568355Z", "disease_sub_group": "", "relevant_disorders": [ "Childhood onset leukodystrophy", "R109" ], "signed_off": "2020-03-04" }, { "id": 502, "name": "Amyloidosis", "stats": { "number_of_strs": 0, "number_of_genes": 11, "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": "2020-02-13T13:29:25.176771Z", "disease_sub_group": "", "relevant_disorders": [ "R204" ], "signed_off": "2020-02-13" }, { "id": 503, "name": "Inherited MMR deficiency (Lynch syndrome)", "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": "1.2", "disease_group": "", "version_created": "2020-03-04T11:14:37.264404Z", "disease_sub_group": "", "relevant_disorders": [ "R210" ], "signed_off": "2020-03-04" }, { "id": 504, "name": "Inherited polyposis", "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": "1.2", "disease_group": "", "version_created": "2020-03-04T11:24:00.030409Z", "disease_sub_group": "", "relevant_disorders": [ "R211", "R209" ], "signed_off": "2020-03-04" }, { "id": 506, "name": "Progressive cardiac conduction disease", "stats": { "number_of_strs": 0, "number_of_genes": 21, "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": "1.5", "disease_group": "", "version_created": "2020-08-20T14:06:27.487764Z", "disease_sub_group": "", "relevant_disorders": [ "R328" ], "signed_off": "2020-08-20" }, { "id": 507, "name": "Common craniosynostosis syndromes", "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": "2020-02-13T13:37:33.900843Z", "disease_sub_group": "", "relevant_disorders": [ "R99" ], "signed_off": "2020-02-13" }, { "id": 508, "name": "Confirmed Fanconi anaemia or Bloom syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 22, "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 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"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": "2020-03-04T11:58:58.787232Z", "disease_sub_group": "", "relevant_disorders": [ "R36" ], "signed_off": "2020-03-04" }, { "id": 510, "name": "Aniridia", "stats": { "number_of_strs": 0, "number_of_genes": 6, "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": "2.5", "disease_group": "", "version_created": "2020-10-06T15:58:28.670255Z", "disease_sub_group": "", "relevant_disorders": [ "R38" ], "signed_off": "2020-10-15" }, { "id": 511, "name": "Albinism or congenital nystagmus", "stats": { "number_of_strs": 0, "number_of_genes": 41, "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": "2020-03-03T15:30:01.162069Z", "disease_sub_group": "", "relevant_disorders": [ "R39" ], "signed_off": "2020-03-03" }, { "id": 512, "name": "Congenital fibrosis of the extraocular muscles", "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": "1.2", "disease_group": "", "version_created": "2020-03-03T15:49:26.846169Z", "disease_sub_group": "", "relevant_disorders": [ "R46" ], "signed_off": "2020-03-03" }, { "id": 513, "name": "Non-acute porphyrias", "stats": { "number_of_strs": 0, "number_of_genes": 9, "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": "1.4", "disease_group": "", "version_created": "2020-03-04T13:51:48.166913Z", "disease_sub_group": "", "relevant_disorders": [ "R168" ], "signed_off": "2020-10-15" }, { "id": 514, "name": "Intestinal failure", "stats": { "number_of_strs": 0, "number_of_genes": 11, "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": "2020-03-04T13:36:34.944901Z", "disease_sub_group": "", "relevant_disorders": [ "R331" ], "signed_off": "2020-03-04" }, { "id": 515, "name": "Iron metabolism disorders", "stats": { "number_of_strs": 0, "number_of_genes": 26, "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": "2020-03-03T16:56:11.665198Z", "disease_sub_group": "", "relevant_disorders": [ "R96" ], "signed_off": "2020-03-03" } ] }