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{
"created": "2020-02-23T21:25:53.625158Z",
"panel_name": "Anophthalmia or microphthalmia",
"panel_id": 34,
"panel_version": "1.23",
"user_name": "Julia Baptista",
"item_type": "entity",
"text": "changed review comment from: One Irish male reported with a de novo KMT2A variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). \nSources: Literature; to: One Irish male reported with a de novo KMT2D variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281). \r\nSources: Literature",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-02-21T16:31:16.959458Z",
"panel_name": "Limb girdle muscular dystrophy",
"panel_id": 185,
"panel_version": "2.3",
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed gene: SMN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:54:53.945822Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.3",
"user_name": "Ian Berry",
"item_type": "entity",
"text": "gene: NPR3 was added\ngene: NPR3 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPR3 were set to PMID: 30032985; 10468599\nPhenotypes for gene: NPR3 were set to Tall stature; arachnodactyly; extra epiphyses; aortic dilatation\nPenetrance for gene: NPR3 were set to unknown\nReview for gene: NPR3 was set to GREEN\ngene: NPR3 was marked as current diagnostic\nAdded comment: 4 individuals in 3 families reported with striking phenotypic similarity.\r\nFunctional evidence compelling.\r\nMouse model recapitulates phenotype (including skeletal features). \nSources: Literature",
"entity_name": "NPR3",
"entity_type": "gene"
},
{
"created": "2020-02-19T17:02:12.576057Z",
"panel_name": "Stickler syndrome",
"panel_id": 3,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:55:56.947998Z",
"panel_name": "Diabetes - neonatal onset",
"panel_id": 293,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:53:01.298446Z",
"panel_name": "Renal tubulopathies",
"panel_id": 292,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:47:15.625749Z",
"panel_name": "Hyperthyroidism",
"panel_id": 236,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:43:11.898693Z",
"panel_name": "Cystic kidney disease",
"panel_id": 283,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:33:32.132675Z",
"panel_name": "Cataracts",
"panel_id": 230,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:21:57.983618Z",
"panel_name": "Short QT syndrome",
"panel_id": 224,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:17:17.580204Z",
"panel_name": "Catecholaminergic polymorphic VT",
"panel_id": 214,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:12:25.037450Z",
"panel_name": "Optic neuropathy",
"panel_id": 186,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:07:53.263639Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T16:00:34.297166Z",
"panel_name": "Arrhythmogenic cardiomyopathy",
"panel_id": 134,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:57:11.839061Z",
"panel_name": "Cardiomyopathies - including childhood onset",
"panel_id": 749,
"panel_version": "1.5",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:48:55.041168Z",
"panel_name": "Skeletal ciliopathies",
"panel_id": 726,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:42:40.646377Z",
"panel_name": "Ophthalmological ciliopathies",
"panel_id": 722,
"panel_version": "1.4",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:32:54.720570Z",
"panel_name": "Thoracic aortic aneurysm and dissection",
"panel_id": 700,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:28:37.677972Z",
"panel_name": "Corneal dystrophies",
"panel_id": 658,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:24:05.584755Z",
"panel_name": "Polycystic liver disease interim",
"panel_id": 653,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:19:07.391079Z",
"panel_name": "Dilated cardiomyopathy - adult and teen",
"panel_id": 652,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T14:00:01.302479Z",
"panel_name": "Inherited phaeochromocytoma and paraganglioma excluding NF1",
"panel_id": 649,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T13:52:04.346220Z",
"panel_name": "Endocrine neoplasms",
"panel_id": 648,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T13:43:14.621324Z",
"panel_name": "Primary pigmented nodular adrenocortical disease",
"panel_id": 566,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T12:11:07.382549Z",
"panel_name": "Rare genetic inflammatory skin disorders",
"panel_id": 565,
"panel_version": "1.6",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T12:05:57.533854Z",
"panel_name": "Mosaic skin disorders - deep sequencing",
"panel_id": 564,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T12:00:19.016887Z",
"panel_name": "Vascular skin disorders",
"panel_id": 563,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T11:56:49.200941Z",
"panel_name": "Epidermodysplasia verruciformis",
"panel_id": 562,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T11:54:05.243338Z",
"panel_name": "Cutaneous photosensitivity with a likely genetic cause",
"panel_id": 560,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T11:49:52.019658Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T11:43:27.239052Z",
"panel_name": "Multiple monogenic benign skin tumours",
"panel_id": 558,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T11:14:02.098877Z",
"panel_name": "Autosomal recessive primary hypertrophic osteoarthropathy",
"panel_id": 557,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T11:03:17.623464Z",
"panel_name": "Palmoplantar keratodermas",
"panel_id": 556,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T10:55:21.000587Z",
"panel_name": "Ichthyosis and erythrokeratoderma",
"panel_id": 555,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T10:51:21.887651Z",
"panel_name": "Epidermolysis bullosa and congenital skin fragility",
"panel_id": 554,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T10:46:01.653349Z",
"panel_name": "Ectodermal dysplasia",
"panel_id": 553,
"panel_version": "1.4",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T10:24:57.553418Z",
"panel_name": "Familial tumoral calcinosis",
"panel_id": 552,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T09:54:34.921759Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A7 was added\ngene: SLC9A7 was added to Intellectual disability. Sources: Expert list\nMode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC9A7 were set to 30335141\nPhenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024\nReview for gene: SLC9A7 was set to AMBER\nAdded comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect. One to watch. \nSources: Expert list",
"entity_name": "SLC9A7",
"entity_type": "gene"
},
{
"created": "2020-02-19T09:27:25.814450Z",
"panel_name": "Lipodystrophy - childhood onset",
"panel_id": 546,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-19T09:25:15.042189Z",
"panel_name": "Lipodystrophy - childhood onset",
"panel_id": 546,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T17:09:59.318873Z",
"panel_name": "Tumour predisposition - childhood onset",
"panel_id": 243,
"panel_version": "2.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T17:09:39.446229Z",
"panel_name": "Tumour predisposition - childhood onset",
"panel_id": 243,
"panel_version": "2.2",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS Cancer Germline Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T17:09:31.043776Z",
"panel_name": "Cholestasis",
"panel_id": 544,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T17:03:31.375646Z",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 543,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:59:14.336122Z",
"panel_name": "Adult solid tumours cancer susceptibility",
"panel_id": 245,
"panel_version": "2.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:58:44.147067Z",
"panel_name": "Leber hereditary optic neuropathy",
"panel_id": 530,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:55:12.756447Z",
"panel_name": "Haematological malignancies cancer susceptibility",
"panel_id": 59,
"panel_version": "2.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:47:27.924019Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:43:22.967912Z",
"panel_name": "Severe early-onset obesity",
"panel_id": 130,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:32:40.541937Z",
"panel_name": "Lysosomal storage disorder",
"panel_id": 529,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:27:20.648988Z",
"panel_name": "Glycogen storage disease",
"panel_id": 528,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T16:22:39.319630Z",
"panel_name": "Lipoprotein lipase deficiency",
"panel_id": 527,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-18T07:42:18.553930Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A1 was added\ngene: SLC1A1 was added to Intellectual disability. Sources: Expert list\nMode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730\nReview for gene: SLC1A1 was set to GREEN\ngene: SLC1A1 was marked as current diagnostic\nAdded comment: ID is part of the phenotype of this metabolic disorder. \nSources: Expert list",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2020-02-18T07:39:12.801725Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKIV2L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2020-02-18T07:36:30.332750Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootorenal syndrome 2 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2020-02-18T07:33:08.612093Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389, Deafness, autosomal dominant 23, MIM# 605192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2020-02-17T16:38:58.792330Z",
"panel_name": "Neuronal ceroid lipofuscinosis",
"panel_id": 526,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T16:33:03.873243Z",
"panel_name": "Possible mitochondrial disorder - nuclear genes",
"panel_id": 539,
"panel_version": "1.14",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T16:12:07.153511Z",
"panel_name": "Mitochondrial disorder with complex V deficiency",
"panel_id": 538,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T16:06:45.287870Z",
"panel_name": "Mitochondrial disorder with complex IV deficiency",
"panel_id": 537,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T16:02:11.027133Z",
"panel_name": "Mitochondrial disorder with complex III deficiency",
"panel_id": 536,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T15:54:33.696847Z",
"panel_name": "Mitochondrial disorder with complex II deficiency",
"panel_id": 535,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T15:49:50.598146Z",
"panel_name": "Mitochondrial disorder with complex I deficiency",
"panel_id": 534,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T15:45:12.687794Z",
"panel_name": "Mitochondrial DNA maintenance disorder",
"panel_id": 533,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T15:32:52.658831Z",
"panel_name": "Mitochondrial liver disease",
"panel_id": 532,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T15:27:02.880001Z",
"panel_name": "Pyruvate dehydrogenase (PDH) deficiency",
"panel_id": 531,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T14:58:33.899245Z",
"panel_name": "Mitochondrial disorders",
"panel_id": 112,
"panel_version": "2.5",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T14:55:48.682735Z",
"panel_name": "Familial hypercholesterolaemia - targeted panel",
"panel_id": 772,
"panel_version": "1.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T14:55:25.261995Z",
"panel_name": "Familial hypercholesterolaemia - targeted panel",
"panel_id": 772,
"panel_version": "1.2",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T14:46:11.869866Z",
"panel_name": "Fetal anomalies",
"panel_id": 478,
"panel_version": "1.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T14:44:24.650502Z",
"panel_name": "Brugada syndrome",
"panel_id": 13,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-17T12:49:47.903026Z",
"panel_name": "Inborn errors of metabolism",
"panel_id": 467,
"panel_version": "2.4",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-16T08:18:41.126423Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH3PXD2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2020-02-16T07:12:53.756722Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFXN4 was added\ngene: SFXN4 was added to Intellectual disability. Sources: Expert list\nMode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SFXN4 were set to 31059822; 24119684\nPhenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, MIM#615578\nReview for gene: SFXN4 was set to GREEN\ngene: SFXN4 was marked as current diagnostic\nAdded comment: Three unrelated families reported, mild ID as well as other neurological features are part of the phenotype. \nSources: Expert list",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2020-02-16T07:03:24.159073Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC31A was added\ngene: SEC31A was added to Intellectual disability. Sources: Expert list\nMode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC31A were set to 30464055\nPhenotypes for gene: SEC31A were set to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies,\tOMIM #618651\nReview for gene: SEC31A was set to AMBER\nAdded comment: Single family with two affected sibs with functional data (drosophila), one to watch. \nSources: Expert list",
"entity_name": "SEC31A",
"entity_type": "gene"
},
{
"created": "2020-02-16T07:00:58.626027Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Cowden syndrome 7 616858, Dyserythropoietic anemia, congenital, type II 224100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:37:49.356674Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:35:32.279263Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:33:54.733251Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCARF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:27:43.944639Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31439720; Phenotypes: Intellectual disability, seizures, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCAMP5",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:24:25.973606Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBF1 was added\ngene: SBF1 was added to Intellectual disability. Sources: Expert list\nMode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SBF1 were set to 24799518; 23749797; 30039846; 28902413\nPhenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284\nReview for gene: SBF1 was set to GREEN\nAdded comment: At least 4 families with multiple affected individuals described. Some have had central features including microcephaly and DD/ID, it is likely this gene causes a mixed picture. \nSources: Expert list",
"entity_name": "SBF1",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:22:25.936636Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: 19906387; Phenotypes: Shwachman-Diamond syndrome, MIM#260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:20:27.518780Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SARS2 was added\ngene: SARS2 was added to Intellectual disability. Sources: Expert list\nMode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS2 were set to 21255763; 24034276\nPhenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845\nReview for gene: SARS2 was set to GREEN\ngene: SARS2 was marked as current diagnostic\nAdded comment: DD/ID is part of the phenotype. Two unrelated families reported, highly specific phenotype. \nSources: Expert list",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2020-02-16T06:18:02.839850Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SALL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL4",
"entity_type": "gene"
},
{
"created": "2020-02-14T21:25:11.916513Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-14T15:56:23.461115Z",
"panel_name": "Skeletal dysplasia",
"panel_id": 309,
"panel_version": "2.3",
"user_name": "Tracy Lester",
"item_type": "entity",
"text": "edited their review of gene: TBXAS1: Added comment: Variants in the AD form are associated with a bleeding disorder - no evidence of skeletal dysplasia in these patients. Mode of inheritance should just be biallelic for the skeletal dysplasia panel.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-02-14T08:31:34.450138Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UCP2 was added\ngene: UCP2 was added to Congenital hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UCP2 were set to 19065272\nPhenotypes for gene: UCP2 were set to Hyperinsulinism\nReview for gene: UCP2 was set to AMBER\nAdded comment: Two children reported with variants in this gene; however, these were inherited. Functional data (mouse model). \nSources: Expert list",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-02-14T08:24:17.595012Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to Congenital hyperinsulinism. Sources: Expert list\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSD1 were set to 30719864\nPhenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550)\nReview for gene: NSD1 was set to GREEN\ngene: NSD1 was marked as current diagnostic\nAdded comment: Hyperinsulinism is a documented feature of this syndrome: at least 9 individuals with NSD1 variants and hyperinsulinism reported; persistent in 3/9/ \nSources: Expert list",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2020-02-14T08:01:51.810181Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1 312870; Mode of inheritance: None",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-02-14T07:50:48.216678Z",
"panel_name": "Congenital hyperinsulinism",
"panel_id": 308,
"panel_version": "2.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-02-14T01:12:28.559326Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474920, 25768905; Phenotypes: Spinocerebellar ataxia 47, MIM#617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-13T23:25:23.513566Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26960553, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency, MIM# 610992, Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-02-13T23:09:43.938174Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRSS56: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2020-02-13T22:22:10.381018Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2, MIM# 262600; Mode of inheritance: None",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2020-02-13T22:16:14.964749Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2020-02-13T21:52:47.038986Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2020-02-13T21:45:42.484447Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R12A was added\ngene: PPP1R12A was added to Intellectual disability. Sources: Expert list\nMode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP1R12A were set to 31883643\nPhenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development\nReview for gene: PPP1R12A was set to GREEN\ngene: PPP1R12A was marked as current diagnostic\nAdded comment: 12 individuals reported. \nSources: Expert list",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2020-02-13T21:43:16.493799Z",
"panel_name": "Intellectual disability",
"panel_id": 285,
"panel_version": "3.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sudden cardiac failure, infantile, MIM# 617222; Mode of inheritance: None",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2020-02-13T13:38:26.171915Z",
"panel_name": "Common craniosynostosis syndromes",
"panel_id": 507,
"panel_version": "1.3",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-13T13:30:18.137514Z",
"panel_name": "Amyloidosis",
"panel_id": 502,
"panel_version": "1.3",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
}
]
}