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{
"id": 484,
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{
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},
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{
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},
{
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},
{
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{
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},
{
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{
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{
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}
],
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{
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},
{
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{
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}
],
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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},
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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}
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{
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{
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"types": [
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"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": "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 other endocrine features and short stature",
"Significant early-onset obesity +/- other endocrine features and short stature",
"R149"
],
"signed_off": "2020-02-18"
},
{
"id": 734,
"name": "Sarcoma susceptibility",
"stats": {
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"number_of_genes": 42,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Cancer Germline Virtual",
"slug": "gms-cancer-germline-virtual",
"description": "This is a panel used for WGS germline analysis for the GMS."
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-02-18T16:47:10.133321Z",
"disease_sub_group": "",
"relevant_disorders": [],
"signed_off": "2020-02-18"
},
{
"id": 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": 230,
"name": "Cataracts",
"stats": {
"number_of_strs": 0,
"number_of_genes": 173,
"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": "553f979fbb5a1616e5ed45f8",
"version": "2.2",
"disease_group": "Ophthalmological disorders",
"version_created": "2019-12-13T14:27:46.188511Z",
"disease_sub_group": "Anterior segment abnormalities",
"relevant_disorders": [
"R31"
],
"signed_off": "2020-02-19"
},
{
"id": 236,
"name": "Hyperthyroidism",
"stats": {
"number_of_strs": 0,
"number_of_genes": 7,
"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": "576cd44c8f6203609632be80",
"version": "2.2",
"disease_group": "Endocrine disorders",
"version_created": "2020-02-19T16:46:54.032233Z",
"disease_sub_group": "Thyroid disorders",
"relevant_disorders": [
"Resistance to thyroid hormone",
"R182"
],
"signed_off": "2020-02-19"
},
{
"id": 530,
"name": "Leber hereditary optic neuropathy",
"stats": {
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"number_of_genes": 3,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-02-18T16:58:37.580909Z",
"disease_sub_group": "",
"relevant_disorders": [
"R42"
],
"signed_off": "2020-02-18"
},
{
"id": 245,
"name": "Adult solid tumours cancer susceptibility",
"stats": {
"number_of_strs": 0,
"number_of_genes": 104,
"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": "595ce30f8f62036352471f39",
"version": "2.2",
"disease_group": "Cancer Programme",
"version_created": "2020-02-18T16:58:52.111020Z",
"disease_sub_group": "Pertinent cancer susceptibility gene panel",
"relevant_disorders": [
"Carcinoma of unknown primary",
"Other",
"Adult solid tumours pertinent cancer susceptibility"
],
"signed_off": "2020-02-18"
},
{
"id": 543,
"name": "Bardet Biedl syndrome",
"stats": {
"number_of_strs": 0,
"number_of_genes": 24,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-02-18T17:03:24.684085Z",
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"relevant_disorders": [
"R107"
],
"signed_off": "2020-02-18"
},
{
"id": 546,
"name": "Lipodystrophy - childhood onset",
"stats": {
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"number_of_genes": 13,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "2.4",
"disease_group": "",
"version_created": "2020-02-19T09:26:12.868792Z",
"disease_sub_group": "",
"relevant_disorders": [
"R158"
],
"signed_off": "2020-02-19"
},
{
"id": 552,
"name": "Familial tumoral calcinosis",
"stats": {
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"number_of_genes": 4,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-02-19T10:22:53.834649Z",
"disease_sub_group": "",
"relevant_disorders": [
"R162"
],
"signed_off": "2020-02-19"
},
{
"id": 398,
"name": "Primary immunodeficiency",
"stats": {
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"number_of_genes": 402,
"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": null,
"version": "2.1",
"disease_group": "",
"version_created": "2020-02-12T11:31:15.302193Z",
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"relevant_disorders": [
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"Inherited complement deficiency",
"SCID",
"Primary immune disorder",
"Primary immunodeficiency",
"A-gammaglobulinaemia",
"Agammaglobulinaemia",
"hypo-gammaglobulinaemia",
"hypogammaglobulinemia",
"immune deficiency syndromes",
"Severe combined immunodeficiency",
"Congenital neutopenia",
"Familial haemophagocytic lymphohistiocytic disorders",
"Familial hemophagocytic lymphohistiocytic disorders",
"PID",
"Sepsis",
"Disseminated non-tuberculous mycobacterial infection",
"R15"
],
"signed_off": "2020-02-24"
},
{
"id": 98,
"name": "Segmental overgrowth disorders",
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"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",
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"version_created": "2020-02-12T11:32:40.292867Z",
"disease_sub_group": "",
"relevant_disorders": [
"Regional overgrowth disorders",
"R110"
],
"signed_off": "2020-02-24"
},
{
"id": 308,
"name": "Congenital hyperinsulinism",
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"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 signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": "553f9781bb5a1616e5ed45f4",
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"disease_group": "Endocrine disorders",
"version_created": "2020-02-25T09:38:27.174650Z",
"disease_sub_group": "Disorders of unusual phenotypes",
"relevant_disorders": [
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"R144"
],
"signed_off": "2020-02-25"
},
{
"id": 31,
"name": "Congenital hypothyroidism",
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"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",
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},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has 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": [
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"R145"
],
"signed_off": "2020-02-25"
},
{
"id": 312,
"name": "Familial hypoparathyroidism",
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"number_of_genes": 9,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
"slug": "rare-disease-100k",
"description": "Rare Disease 100K"
},
{
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},
{
"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": "55bf826222c1fc0fe45530c1",
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"disease_group": "Endocrine disorders",
"version_created": "2020-02-25T10:13:04.490825Z",
"disease_sub_group": "Disorders of calcium homeostasis",
"relevant_disorders": [
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],
"signed_off": "2020-02-25"
},
{
"id": 472,
"name": "Monogenic diabetes",
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"number_of_genes": 77,
"number_of_regions": 1
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
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"version": "2.2",
"disease_group": "",
"version_created": "2020-02-25T10:24:25.707488Z",
"disease_sub_group": "",
"relevant_disorders": [
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],
"signed_off": "2020-02-25"
},
{
"id": 96,
"name": "Malformations of cortical development",
"stats": {
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"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": 307,
"name": "Retinal disorders",
"stats": {
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"number_of_genes": 371,
"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": "56e0238b22c1fc09c97a6e46",
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"disease_group": "Ophthalmological disorders",
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"disease_sub_group": "Posterior segment abnormalities",
"relevant_disorders": [
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"Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy",
"Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy",
"Rod Dysfunction Syndrome",
"Rod-cone dystrophy",
"Familial exudative vitreoretinopathy",
"Familial exudative retinopathy",
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"R33",
"R34",
"R35"
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"signed_off": "2020-02-25"
},
{
"id": 541,
"name": "Paroxysmal central nervous system disorders",
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"number_of_genes": 83,
"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": "1.2",
"disease_group": "",
"version_created": "2020-02-27T09:15:48.741551Z",
"disease_sub_group": "",
"relevant_disorders": [
"Paroxysmal neurological disorders",
"pain disorders and sleep disorders",
"R66"
],
"signed_off": "2020-02-27"
},
{
"id": 846,
"name": "Hereditary neuropathy NOT PMP22 copy number",
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"number_of_genes": 276,
"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": "2020-02-27T09:50:07.545891Z",
"disease_sub_group": "",
"relevant_disorders": [
"R78"
],
"signed_off": "2020-02-27"
},
{
"id": 78,
"name": "Holoprosencephaly",
"stats": {
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"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."
}
],
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"disease_sub_group": "Neurodevelopmental disorders",
"relevant_disorders": [
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"Holoprosencephaly - NOT chromosomal",
"R85"
],
"signed_off": "2020-02-27"
},
{
"id": 235,
"name": "Distal myopathies",
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"number_of_genes": 28,
"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",
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"disease_group": "Neurology and neurodevelopmental disorders",
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"disease_sub_group": "Neuromuscular disorders",
"relevant_disorders": [],
"signed_off": "2020-03-02"
},
{
"id": 232,
"name": "Congenital myaesthenic syndrome",
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"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",
"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."
}
],
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"disease_sub_group": "Neuromuscular disorders",
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"signed_off": "2020-03-02"
},
{
"id": 225,
"name": "Congenital myopathy",
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"number_of_genes": 108,
"number_of_regions": 3
},
"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."
}
],
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],
"signed_off": "2020-03-02"
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{
"id": 207,
"name": "Congenital muscular dystrophy",
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"number_of_genes": 54,
"number_of_regions": 0
},
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"name": "Rare Disease 100K",
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"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease",
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"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",
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"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
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},
{
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"number_of_genes": 89,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
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},
{
"name": "GMS Rare Disease",
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"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",
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"description": "This panel is a component of a Super Panel"
},
{
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"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
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],
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},
{
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"number_of_genes": 98,
"number_of_regions": 0
},
"types": [
{
"name": "Rare Disease 100K",
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},
{
"name": "GMS Rare Disease Virtual",
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},
{
"name": "Component Of Super Panel",
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"description": "This panel is a component of a Super Panel"
},
{
"name": "GMS signed-off",
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}
],
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{
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"number_of_regions": 5
},
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{
"name": "Rare Disease 100K",
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},
{
"name": "GMS Rare Disease Virtual",
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},
{
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}
],
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},
{
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},
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{
"name": "Rare Disease 100K",
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},
{
"name": "GMS Rare Disease Virtual",
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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": "GMS signed-off",
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"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
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"signed_off": "2020-03-02"
},
{
"id": 551,
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},
"types": [
{
"name": "GMS Rare Disease Virtual",
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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": "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."
}
],
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],
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},
{
"id": 550,
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"number_of_genes": 62,
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},
"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."
}
],
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],
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},
{
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},
"types": [
{
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},
{
"name": "GMS Rare Disease Virtual",
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},
{
"name": "GMS Rare Disease",
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"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."
}
],
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},
{
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},
"types": [
{
"name": "Rare Disease 100K",
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"description": "Rare Disease 100K"
},
{
"name": "GMS Rare Disease Virtual",
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},
{
"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."
}
],
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},
{
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},
"types": [
{
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},
{
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},
{
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}
],
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},
{
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"types": [
{
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},
{
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}
],
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{
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},
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},
{
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},
{
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}
],
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},
{
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},
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{
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},
{
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}
],
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{
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{
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},
{
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}
],
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},
{
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},
"types": [
{
"name": "GMS Rare Disease Virtual",
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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."
},
{
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}
],
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{
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"types": [
{
"name": "Rare Disease 100K",
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},
{
"name": "GMS Rare Disease Virtual",
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},
{
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"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
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{
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"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": 386,
"name": "Pancreatitis",
"stats": {
"number_of_strs": 0,
"number_of_genes": 16,
"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": null,
"version": "2.2",
"disease_group": "",
"version_created": "2020-03-03T15:55:47.416555Z",
"disease_sub_group": "",
"relevant_disorders": [
"R175"
],
"signed_off": "2020-03-03"
},
{
"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"
},
{
"id": 516,
"name": "Thrombophilia",
"stats": {
"number_of_strs": 0,
"number_of_genes": 20,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-03-03T17:00:28.468593Z",
"disease_sub_group": "",
"relevant_disorders": [
"R97"
],
"signed_off": "2020-03-03"
},
{
"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": 678,
"name": "Unexplained paediatric onset end-stage renal disease",
"stats": {
"number_of_strs": 0,
"number_of_genes": 231,
"number_of_regions": 3
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-03-04T11:06:43.298358Z",
"disease_sub_group": "",
"relevant_disorders": [
"R257"
],
"signed_off": "2020-03-04"
},
{
"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": 521,
"name": "Inherited renal cancer",
"stats": {
"number_of_strs": 0,
"number_of_genes": 16,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-03-04T11:28:00.886832Z",
"disease_sub_group": "",
"relevant_disorders": [
"R224"
],
"signed_off": "2020-03-04"
},
{
"id": 650,
"name": "Hypogonadotropic hypogonadism idiopathic",
"stats": {
"number_of_strs": 0,
"number_of_genes": 33,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.4",
"disease_group": "",
"version_created": "2020-03-04T11:30:36.507575Z",
"disease_sub_group": "",
"relevant_disorders": [
"R148"
],
"signed_off": "2020-03-04"
},
{
"id": 725,
"name": "Renal ciliopathies",
"stats": {
"number_of_strs": 0,
"number_of_genes": 97,
"number_of_regions": 2
},
"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": "1.2",
"disease_group": "Ciliopathies",
"version_created": "2020-03-04T11:32:38.414347Z",
"disease_sub_group": "Congenital malformations caused by ciliopathies",
"relevant_disorders": [],
"signed_off": "2020-03-04"
},
{
"id": 517,
"name": "Combined factor V and VIII deficiency",
"stats": {
"number_of_strs": 0,
"number_of_genes": 2,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-03-03T17:05:01.006974Z",
"disease_sub_group": "",
"relevant_disorders": [
"R124"
],
"signed_off": "2020-03-03"
},
{
"id": 518,
"name": "Rare anaemia",
"stats": {
"number_of_strs": 0,
"number_of_genes": 94,
"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": "2020-03-03T17:07:35.356647Z",
"disease_sub_group": "",
"relevant_disorders": [
"R92"
],
"signed_off": "2020-03-03"
},
{
"id": 525,
"name": "Inherited predisposition to acute myeloid leukaemia (AML)",
"stats": {
"number_of_strs": 0,
"number_of_genes": 14,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
"status": "public",
"hash_id": null,
"version": "1.2",
"disease_group": "",
"version_created": "2020-03-03T17:29:42.356785Z",
"disease_sub_group": "",
"relevant_disorders": [
"R347"
],
"signed_off": "2020-03-03"
},
{
"id": 545,
"name": "Bleeding and platelet disorders",
"stats": {
"number_of_strs": 0,
"number_of_genes": 112,
"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": "2020-03-03T17:33:13.070153Z",
"disease_sub_group": "",
"relevant_disorders": [
"R90"
],
"signed_off": "2020-03-03"
},
{
"id": 243,
"name": "Tumour predisposition - childhood onset",
"stats": {
"number_of_strs": 0,
"number_of_genes": 113,
"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": "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": "55af539322c1fc78a9ef5052",
"version": "2.5",
"disease_group": "Tumour syndromes",
"version_created": "2020-03-04T10:12:34.614035Z",
"disease_sub_group": "Childhood Tumours",
"relevant_disorders": [
"Paediatric congenital malformation-dysmorphism-tumour syndrome",
"Paediatric congenital malformation-dysmorphism-tumour syndromes",
"Paediatric congenital malformation-dysmorphism-tumour sydromes",
"Paediatric congenital malformation-dysmorphism-tumour syndrome",
"R359"
],
"signed_off": "2020-03-04"
},
{
"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"
}
]
}