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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1406",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1404",
"results": [
{
"created": "2021-02-18T17:29:10.550948+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Mosaic skin disorders. Sources: Literature\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3R2 were set to PMID: 22729224\nReview for gene: PIK3R2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:24:30.069215+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Mosaic skin disorders. Sources: Literature,Expert Review\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSC2 were set to PMID: 26540169\nReview for gene: TSC2 was set to GREEN\nAdded comment: Sources: Literature, Expert Review",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:23:59.262311+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Mosaic skin disorders. Sources: Expert Review,Literature\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSC1 were set to PMID: 26540169\nReview for gene: TSC1 was set to GREEN\nAdded comment: Sources: Expert Review, Literature",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:21:36.709216+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:21:31.530946+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:21:24.221179+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:21:19.691349+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:20:58.675706+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "edited their review of gene: KRAS: Changed publications: PMID: 22499344, PMID: 22683711, PMID: 26970110, PMID: 25808193",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:46.199745+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:37.818680+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:30.557013+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22057234; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:25.535265+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:18.022378+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22057234; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:12.948332+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:06.234077+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711, PMID: 24006476; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:19:00.653277+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:18:37.913915+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "edited their review of gene: GNAS: Changed publications: PMID: 12970318, PMID: 15126527, PMID: 10646121, PMID: 1594625, PMID: 1944469",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:14:18.009198+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12970318; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:14:10.766318+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:51.456485+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26778290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:46.103468+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:39.292193+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27476652; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:33.490442+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:26.110321+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26778290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:20.026517+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:12.294494+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16841094, PMID: 22499344; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:13:04.203815+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:12:56.300377+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26942290; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:12:49.740739+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:12:35.892830+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21793738; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:12:29.904420+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:12:14.245258+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28347698; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:12:07.226905+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:11:47.955561+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27423141; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:11:21.289718+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27236920; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:11:00.424863+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31570889; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:10:26.108687+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24038909, PMID: 30635911; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:09:46.958626+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10749983, PMID: 12471211; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:09:13.296225+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22729224, PMID: 29446767, PMID: 23100325; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:08:45.451203+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 24006476, PMID: 10878667; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:07:51.186939+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17668375, PMID: 14605872; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:06:26.934707+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27159400; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:05:52.053563+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25728774; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:05:21.484133+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29461977; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:04:29.821887+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:03:52.784320+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T17:02:04.112576+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499344, PMID: 22683711; Phenotypes: Linear sebaceous nevus syndrome (163200), Oculoectodermal syndrome (600268); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:58:53.774990+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:57:07.372094+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28347698; Phenotypes: Becker naevus (604919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:56:53.232547+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:56:08.658217+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:55:45.851724+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:55:25.851703+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:54:17.410263+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 22499344, PMID: 22683711, PMID: 24006476; Phenotypes: Epidermal nevus (162900), Linear sebaceous nevus syndrome (163200), Congenital melanocytic nevus (137550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:50:58.231595+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 27476652; Phenotypes: tufted angiomas (TA), laposiform hemangioendotheliomas (KHE), lobular capillary hemangiomas (LCH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:48:33.538120+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 28347698; Phenotypes: Becker naevus (604919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:47:21.381025+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:46:23.728123+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:45:53.720265+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 26778290; Phenotypes: Phakomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:44:18.333202+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:43:56.979449+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 16841094, PMID: 22499344; Phenotypes: Epidermal naevi (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:38:17.935029+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 26942290; Phenotypes: Encephalocraniocutaneous Lipomatosis (613001); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:32:33.399450+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:31:59.568408+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T16:28:26.371406+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.1",
"user_name": "Mathew Wallis",
"item_type": "entity",
"text": "reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:58:13.724613+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG7 as ready",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:58:13.719358+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note bi-allelic variants are associated with spastic paraplegia.",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:58:13.680598+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Green List (High Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:57:56.529311+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG7 were changed from to autosomal dominant optical atrophy",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:57:28.452409+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG7 were set to ",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:56:58.400060+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:23.045975+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD14 was added\ngene: CARD14 was added to Mosaic skin disorders. Sources: NHS GMS,Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.960642+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEK was added\ngene: TEK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TEK were set to 27519652\nPhenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.914520+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN11 were set to Mosaic case series shortly to be published by Kinsler group\nPhenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.869243+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMVK was added\ngene: PMVK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PMVK were set to 30942823\nPhenotypes for gene: PMVK were set to Linear porokeratosis",
"entity_name": "PMVK",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.816252+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MVD was added\ngene: MVD was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MVD were set to 30942823\nPhenotypes for gene: MVD were set to Linear porokeratosis",
"entity_name": "MVD",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.767134+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.723693+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR2 was added\ngene: FGFR2 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR2 were set to 9728990\nPhenotypes for gene: FGFR2 were set to Epdermal naevi",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.679854+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP2A2 was added\ngene: ATP2A2 was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.636643+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRED1 was added\ngene: SPRED1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPRED1 were set to 27423141\nPhenotypes for gene: SPRED1 were set to Legius syndrome",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.592887+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMO were set to 27236920\nPhenotypes for gene: SMO were set to Curry-Jones syndrome",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.540036+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHOA was added\ngene: RHOA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RHOA were set to 31570889\nPhenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.495605+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RASA1 were set to 30635911; 24038909\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.451844+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTEN were set to 12471211; 10749983\nPhenotypes for gene: PTEN were set to Epidermal naevi; Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Melanoma",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.406561+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3CA were set to 22499344; 23100325; 22729224; 29446767\nPhenotypes for gene: PIK3CA were set to Vascular malformations; PIK3CA-related overgrowth syndromes",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.361004+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRAS were set to 22499344; 24006476; 10878667\nPhenotypes for gene: NRAS were set to Noonan syndrome; Melanocytic naevi; Congenital melanocytic naevus syndrome",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.316167+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NF2 was added\ngene: NF2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NF2 were set to 29409008\nPhenotypes for gene: NF2 were set to NF2; NEUROFIBROMATOSIS, TYPE II",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.273502+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NF1 were set to 14605872; 17668375\nPhenotypes for gene: NF1 were set to Neurofibromatosis type I",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.226656+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTOR was added\ngene: MTOR was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTOR were set to 27159400\nPhenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.180416+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP3K3 was added\ngene: MAP3K3 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP3K3 were set to 25728774\nPhenotypes for gene: MAP3K3 were set to Verrucous haemangiomas",
"entity_name": "MAP3K3",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.131626+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K1 were set to 29461977\nPhenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.087398+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT10 was added\ngene: KRT10 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT10 were set to 25495838; 29135017\nPhenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Pachyonychia congenita; Ichythosis with confetti; Palmoplantar keratoderma",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:22.040256+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT1 was added\ngene: KRT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRT1 were set to 28532675; 17255957\nPhenotypes for gene: KRT1 were set to Ichthyosis histrix; Epidermolytic hyperkeratosis; Palmoplantar keratoderma",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.993696+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRAS were set to 22499344; 22683711\nPhenotypes for gene: KRAS were set to Epidermal naevi; Schimmelpenning syndrome",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.951716+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH2 was added\ngene: IDH2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IDH2 were set to 22057234\nPhenotypes for gene: IDH2 were set to Maffucci syndrome; Ollier disease",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.909708+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH1 was added\ngene: IDH1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IDH1 were set to 22057234\nPhenotypes for gene: IDH1 were set to Maffucci syndrome; Ollier disease",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.868136+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRAS were set to 22499344; 22683711; 24006476\nPhenotypes for gene: HRAS were set to Phakomatosis pigmentokeratotica; Epidermal naevi; Woolly hair; Costello syndrome; Schimmelpenning syndrome",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.826989+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GNAS were set to 12970318\nPhenotypes for gene: GNAS were set to McCune-Albright syndrome",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.782545+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAQ was added\ngene: GNAQ was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAQ were set to 26778290\nPhenotypes for gene: GNAQ were set to Extensive dermal melanocytosis; Sturge Weber syndrome; Phakomatosis pigmentovascularis",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2021-02-18T14:49:21.740119+11:00",
"panel_name": "Mosaic skin disorders",
"panel_id": 3472,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNA14 was added\ngene: GNA14 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp\nMode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNA14 were set to 27476652\nPhenotypes for gene: GNA14 were set to Kaposiform endothelioma; Tufted angioma",
"entity_name": "GNA14",
"entity_type": "gene"
}
]
}