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
https://panelapp.genomicsengland.co.uk/api/v1/panels/signedoff/?format=api&page=2", "previous": null, "results": [ { "id": 3, "name": "Stickler syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 11, "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": "4.0", "disease_group": "Skeletal disorders", "version_created": "2023-03-22T15:38:28.046827Z", "disease_sub_group": "Skeletal dysplasias", "relevant_disorders": [ "R45" ], "signed_off": "2023-03-22" }, { "id": 9, "name": "Disorders of sex development", "stats": { "number_of_strs": 0, "number_of_genes": 67, "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": "569380ac22c1fc251660faf8", "version": "4.0", "disease_group": "Endocrine disorders", "version_created": "2023-03-22T17:01:24.025090Z", "disease_sub_group": "Gonadal and sex development disorders", "relevant_disorders": [ "R146" ], "signed_off": "2023-03-22" }, { "id": 13, "name": "Brugada syndrome and cardiac sodium channel disease", "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": "3.2", "disease_group": "Cardiovascular disorders", "version_created": "2023-03-22T11:21:23.991053Z", "disease_sub_group": "Cardiac arrhythmia", "relevant_disorders": [ "Brugada syndrome", "R128" ], "signed_off": "2023-03-22" }, { "id": 25, "name": "Congenital disorders of glycosylation", "stats": { "number_of_strs": 0, "number_of_genes": 115, "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": "4.0", "disease_group": "Metabolic disorders", "version_created": "2023-03-22T15:15:30.929323Z", "disease_sub_group": "Specific metabolic abnormalities", "relevant_disorders": [ "Congential disorders of glycosylation" ], "signed_off": "2023-03-22" }, { "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", "stats": { "number_of_strs": 1, "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": "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": "4.0", "disease_group": "Cardiovascular disorders", "version_created": "2023-03-22T15:02:38.012100Z", "disease_sub_group": "Cardiomyopathy", "relevant_disorders": [ "Hypertrophic cardiomyopathy - teen and adult", "HCM", "R131" ], "signed_off": "2023-03-22" }, { "id": 53, "name": "Ehlers Danlos syndrome with a likely monogenic cause", "stats": { "number_of_strs": 0, "number_of_genes": 80, "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": "3.0", "disease_group": "Rheumatological disorders", "version_created": "2023-03-22T15:45:26.029347Z", "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", "Ehlers Danlos syndromes", "R101" ], "signed_off": "2023-03-22" }, { "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": "2.0", "disease_group": "Cancer Programme", "version_created": "2023-03-22T16:27:25.290394Z", "disease_sub_group": "Pertinent cancer susceptibility gene panel", "relevant_disorders": [ "Breast" ], "signed_off": "2023-03-22" }, { "id": 59, "name": "Haematological malignancies cancer susceptibility", "stats": { "number_of_strs": 0, "number_of_genes": 100, "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": "4.0", "disease_group": "Cancer Programme", "version_created": "2023-03-22T16:29:16.821733Z", "disease_sub_group": "Pertinent cancer susceptibility gene panel", "relevant_disorders": [ "Haemonc", "Haematological malignancies pertinent cancer susceptibility" ], "signed_off": "2023-03-22" }, { "id": 65, "name": "Primary lymphoedema", "stats": { "number_of_strs": 0, "number_of_genes": 56, "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": "3.0", "disease_group": "Cardiovascular disorders", "version_created": "2022-11-30T14:52:22.760987Z", "disease_sub_group": "Lymphatic Disorders", "relevant_disorders": [ "Lymphatic Disorders", "Meiges disease", "Meige disease", "Milroy disease", "Lymphoedema distichiasis", "Lipoedema disease", "R136" ], "signed_off": "2022-11-30" }, { "id": 66, "name": "Rhabdomyolysis and metabolic muscle disorders", "stats": { "number_of_strs": 0, "number_of_genes": 62, "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": "3.0", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2023-03-22T15:13:56.719313Z", "disease_sub_group": "Neuromuscular disorders", "relevant_disorders": [], "signed_off": "2023-03-22" }, { "id": 76, "name": "Long QT 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": "55a3b19722c1fc6710839b80", "version": "3.1", "disease_group": "Cardiovascular disorders", "version_created": "2022-11-30T13:09:43.448011Z", "disease_sub_group": "Cardiac arrhythmia", "relevant_disorders": [ "Long QT", "R127" ], "signed_off": "2023-03-22" }, { "id": 77, "name": "Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 21, "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": "3.0", "disease_group": "Dysmorphic and congenital abnormality syndromes", "version_created": "2023-03-22T16:58:30.820060Z", "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": "2023-03-22" }, { "id": 78, "name": "Holoprosencephaly - NOT chromosomal", "stats": { "number_of_strs": 0, "number_of_genes": 25, "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": "4.0", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2023-03-22T15:06:07.755265Z", "disease_sub_group": "Neurodevelopmental disorders", "relevant_disorders": [ "Rhombencephalosynapsis", "Holoprosencephaly", "R85" ], "signed_off": "2023-03-22" }, { "id": 79, "name": "Paediatric motor neuronopathies", "stats": { "number_of_strs": 2, "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": "3.3", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2023-03-22T15:12:46.752408Z", "disease_sub_group": "Motor and Sensory Disorders of the PNS", "relevant_disorders": [], "signed_off": "2023-03-22" }, { "id": 81, "name": "Clefting", "stats": { "number_of_strs": 0, "number_of_genes": 268, "number_of_regions": 6 }, "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": "4.0", "disease_group": "Dysmorphic and congenital abnormality syndromes", "version_created": "2023-03-22T15:28:22.058056Z", "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": "2023-03-22" }, { "id": 83, "name": "Membranoproliferative glomerulonephritis including C3 glomerulopathy", "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": "3.0", "disease_group": "Renal and urinary tract disorders", "version_created": "2023-03-22T16:05:06.870861Z", "disease_sub_group": "Syndromes with prominent renal abnormalities", "relevant_disorders": [ "PMG", "MPGN", "Primary Membranoproliferative Glomerulonephritis", "Primary membranoproliferative glomerulonephritis", "Membranoproliferative glomerulonephritis", "R197" ], "signed_off": "2023-03-22" }, { "id": 96, "name": "Malformations of cortical development", "stats": { "number_of_strs": 0, "number_of_genes": 119, "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": "4.0", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2023-03-22T16:23:34.028299Z", "disease_sub_group": "Neurodevelopmental disorders", "relevant_disorders": [], "signed_off": "2023-03-22" }, { "id": 98, "name": "Segmental overgrowth disorders - Deep sequencing", "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 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": "3.3", "disease_group": "", "version_created": "2023-03-22T11:43:32.313756Z", "disease_sub_group": "", "relevant_disorders": [ "Regional overgrowth disorders", "Segmental overgrowth disorders", "R110" ], "signed_off": "2023-03-22" }, { "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": "3.0", "disease_group": "Respiratory disorders", "version_created": "2023-03-22T16:01:04.902712Z", "disease_sub_group": "Structural lung disorders", "relevant_disorders": [ "Familial Pneumothorax", "Familial Primary Spontaneous Pneumothorax", "R190" ], "signed_off": "2023-03-22" }, { "id": 106, "name": "Proteinuric renal disease", "stats": { "number_of_strs": 0, "number_of_genes": 108, "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 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"Congenital hearing impairment", "Autosomal dominant deafness", "Congenital hearing impairment (profound/severe)", "Non-syndromic hearing loss", "R67" ], "signed_off": "2023-03-22" }, { "id": 130, "name": "Severe early-onset obesity", "stats": { "number_of_strs": 0, "number_of_genes": 43, "number_of_regions": 3 }, "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 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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": "55a3876e22c1fc63fec6d0da", "version": "3.5", "disease_group": "Cardiovascular disorders", "version_created": "2023-03-22T14:29:15.759763Z", "disease_sub_group": "Cardiomyopathy", "relevant_disorders": [ "Arrhythmogenic cardiomyopathy", "R133" ], "signed_off": "2023-03-22" }, { "id": 139, "name": "Atypical haemolytic uraemic syndrome", "stats": { "number_of_strs": 0, "number_of_genes": 15, "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": "563248da22c1fc58285b283a", "version": "3.0", "disease_group": "Renal and urinary tract disorders", "version_created": "2023-03-22T15:44:08.681945Z", "disease_sub_group": "Syndromes with prominent renal abnormalities", "relevant_disorders": [ "R201" ], "signed_off": "2023-03-22" }, { "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": "4.0", "disease_group": "Tumour syndromes", "version_created": "2023-03-22T16:23:01.202614Z", "disease_sub_group": "Breast and endocrine", "relevant_disorders": [ "Familial ovarian cancer", "R207" ], "signed_off": "2023-03-22" }, { "id": 145, "name": "Congenital adrenal hypoplasia", "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 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": "55bf785822c1fc0fe45530bf", "version": "3.0", "disease_group": "Endocrine disorders", "version_created": "2022-11-30T14:47:18.258664Z", "disease_sub_group": "Adrenal disorders", "relevant_disorders": [ "R150" ], "signed_off": "2022-11-30" }, { "id": 147, "name": "Cerebral vascular 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"553f94d5bb5a1616e5ed45a5", "version": "4.0", "disease_group": "Renal and urinary tract disorders", "version_created": "2023-03-22T15:47:45.819228Z", "disease_sub_group": "Disorders of function", "relevant_disorders": [ "Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)", "Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)", "R256" ], "signed_off": "2023-03-22" }, { "id": 157, "name": "Hereditary Erythrocytosis", "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", "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 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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": "55b7a65322c1fc05fc7a1869", "version": "4.0", "disease_group": "Neurology and neurodevelopmental disorders", "version_created": "2023-03-22T15:34:20.663636Z", "disease_sub_group": "Neuromuscular disorders", "relevant_disorders": [ "Limb girdle muscular dystrophy", "R82" ], "signed_off": "2023-03-22" }, { "id": 186, "name": "Optic neuropathy", "stats": { "number_of_strs": 0, "number_of_genes": 69, "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 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"Skeletal dysplasias", "relevant_disorders": [ "Osteogenesis Imperfecta", "R102" ], "signed_off": "2023-03-22" }, { "id": 207, "name": "Congenital muscular dystrophy", "stats": { "number_of_strs": 1, "number_of_genes": 58, "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": "55b117c022c1fc7dd7ce411c", "version": "4.0", "disease_group": "Neurology and neurodevelopmental 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"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": "55a646ef22c1fc6710839b9a", "version": "4.0", "disease_group": "Renal and urinary tract disorders", "version_created": "2023-03-22T15:24:05.267919Z", "disease_sub_group": "Structural renal and urinary tract disease", "relevant_disorders": [ "Cystic kidney disease" ], "signed_off": "2023-03-22" }, { "id": 285, "name": "Intellectual disability - microarray and sequencing", "stats": { 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"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": "12.1", "disease_group": "", "version_created": "2023-03-22T15:16:04.729765Z", "disease_sub_group": "", "relevant_disorders": [ "Hereditary ataxia with onset in childhood", "Cerebellar anomalies", "R55", "R84" ], "signed_off": "2023-03-22" }, { "id": 490, "name": "Hypotonic infant", "stats": { "number_of_strs": 22, "number_of_genes": 3972, "number_of_regions": 71 }, "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": "25.1", "disease_group": "", "version_created": "2023-03-22T15:34:57.508508Z", "disease_sub_group": "", "relevant_disorders": [ "Floppy infant with a likely central cause", "Hypotonic infant with a likely central cause", "R69" ], "signed_off": "2023-03-22" }, { "id": 491, "name": "Cerebral malformation", "stats": { "number_of_strs": 0, "number_of_genes": 156, "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": "10.1", "disease_group": "", "version_created": "2023-03-22T16:24:10.632510Z", "disease_sub_group": "", "relevant_disorders": [ "Cerebral malformations", "R87" ], "signed_off": "2023-03-22" }, { "id": 496, "name": "Childhood onset leukodystrophy", "stats": { "number_of_strs": 17, "number_of_genes": 4252, "number_of_regions": 64 }, "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": "14.2", "disease_group": "", "version_created": "2023-03-22T15:19:58.484636Z", "disease_sub_group": "", "relevant_disorders": [ "White matter disorders - childhood onset", "R109" ], "signed_off": "2023-03-22" }, { "id": 502, "name": "Hereditary systemic 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": "1.18", "disease_group": "", "version_created": "2023-03-22T11:25:52.942351Z", "disease_sub_group": "", "relevant_disorders": [ "Amyloidosis", "R204" ], "signed_off": "2023-03-22" }, { "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 and early onset colorectal cancer - germline testing", "stats": { "number_of_strs": 0, "number_of_genes": 19, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2022-11-30T13:33:33.529693Z", "disease_sub_group": "", "relevant_disorders": [ "Inherited polyposis", "R211" ], "signed_off": "2022-11-30" }, { "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": "2.2", "disease_group": "", "version_created": "2022-11-30T16:00:05.616464Z", "disease_sub_group": "", "relevant_disorders": [ "R328" ], "signed_off": "2023-03-22" }, { "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": 23, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ], "status": "public", "hash_id": null, "version": "2.0", "disease_group": "", "version_created": "2023-03-22T15:29:37.174037Z", "disease_sub_group": "", "relevant_disorders": [ "R229", "R258" ], "signed_off": "2023-03-22" }, { "id": 509, "name": "Structural eye disease", "stats": { "number_of_strs": 0, "number_of_genes": 490, "number_of_regions": 2 }, "types": [ { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:41:02.535389Z", "disease_sub_group": "", "relevant_disorders": [ "R36" ], "signed_off": "2023-03-22" }, { "id": 510, "name": "Sporadic 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": "3.2", "disease_group": "", "version_created": "2023-03-22T12:26:19.521541Z", "disease_sub_group": "", "relevant_disorders": [ "Aniridia", "R38" ], "signed_off": "2023-03-22" }, { "id": 511, "name": "Albinism or congenital nystagmus", "stats": { "number_of_strs": 0, "number_of_genes": 47, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T15:28:14.954756Z", "disease_sub_group": "", "relevant_disorders": [ "R39" ], "signed_off": "2023-03-22" }, { "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 or congenital diarrhoea", "stats": { "number_of_strs": 0, "number_of_genes": 47, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ], "status": "public", "hash_id": null, "version": "3.0", "disease_group": "", "version_created": "2023-03-22T17:17:15.138609Z", "disease_sub_group": "", "relevant_disorders": [ "R331", "Intestinal failure" ], "signed_off": "2023-03-22" }, { "id": 515, "name": "Iron metabolism disorders - NOT common HFE mutations", "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": "2.0", "disease_group": "", "version_created": "2023-03-22T15:32:37.547491Z", "disease_sub_group": "", "relevant_disorders": [ "Iron metabolism disorders", "R96" ], "signed_off": "2023-03-22" }, { "id": 516, "name": "Thrombophilia with a likely monogenic cause", "stats": { "number_of_strs": 0, "number_of_genes": 21, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ], "status": "public", "hash_id": null, "version": "2.2", "disease_group": "", "version_created": "2023-03-22T12:21:39.732756Z", "disease_sub_group": "", "relevant_disorders": [ "Thrombophilia", "R97" ], "signed_off": "2023-03-22" } ] }{ "count": 298, "next": "