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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1677",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1675",
"results": [
{
"created": "2020-08-12T13:33:23.681025+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:33:13.106528+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHB2 as Amber List (moderate evidence)",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:33:13.095662+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:32:55.768103+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHB2 as Amber List (moderate evidence)",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:32:55.759580+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:32:34.330819+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHB2 was added\ngene: EPHB2 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: EPHB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPHB2 were set to 30213874; 25370417\nPhenotypes for gene: EPHB2 were set to Bleeding disorder, platelet-type, 22, MIM#\t618462\nReview for gene: EPHB2 was set to AMBER\nAdded comment: Single family and a mouse model. \nSources: Expert list",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:28:30.235371+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25398053, 25168385, 30811667; Phenotypes: Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100), Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:26:27.013279+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:26:26.997134+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:26:21.048193+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENG as Green List (high evidence)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:26:21.033399+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:25:53.823412+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM#\t187300\nReview for gene: ENG was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-08-12T13:05:45.212261+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: FAM83G was added\ngene: FAM83G was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM83G were set to PMID: 29138053\nPhenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy\nPenetrance for gene: FAM83G were set to unknown\nReview for gene: FAM83G was set to RED\nAdded comment: PMID: 29138053;\r\n- 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair\r\n- progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years\r\n> homozygous for a missense p.(Ala34Glu) \nSources: Literature",
"entity_name": "FAM83G",
"entity_type": "gene"
},
{
"created": "2020-08-12T12:55:27.937489+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24075184, 32598042; Phenotypes: Cole disease (MIM#615522); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2020-08-12T12:47:49.497469+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ELOVL4 was added\ngene: ELOVL4 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELOVL4 were set to 22100072; 24571530\nPhenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation\t(MIM#614457)\nPenetrance for gene: ELOVL4 were set to unknown\nReview for gene: ELOVL4 was set to GREEN\nAdded comment: PMID: 22100072;\r\n- 1x proband born of consanguineous parents with congenital ichthyosis, profound developmental delay, recalcitrant seizures, severe hypertonia in the upper and lower extremities\r\n> homozygous for a nonsense variant\r\n\r\n- 1x proband born of consanguineous parents with congenital ichthyosis, myoclonic seizures, profound motor delay \r\n> homozygous for a frameshift\r\n\r\nPMID: 24571530;\r\n- 1x consanguineous family with 3 affecteds with congenital ichthyosis\r\n- Intellectual disability and spastic quadriplegia were observed only in 1 of the patients\r\n> homozygous for a nonsense \nSources: Literature",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2020-08-12T11:56:37.785705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3748",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: LONP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LONP2",
"entity_type": "gene"
},
{
"created": "2020-08-12T11:41:26.017369+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-12T11:22:29.605648+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22703878, 27760266; Phenotypes: Pityriasis rubra pilaris (MIM#173200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CARD14",
"entity_type": "gene"
},
{
"created": "2020-08-12T10:51:04.521055+10:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.82",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-08-12T10:39:04.537709+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYLD as Amber List (moderate evidence)",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2020-08-12T10:39:04.527235+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyld has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2020-08-12T10:38:06.635927+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CYLD: Rating: AMBER; Mode of pathogenicity: None; Publications: 32666117, 32666099, 32185393; Phenotypes: frontotemporal dementia, amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2020-08-12T10:12:13.641727+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30451279, 26608363; Phenotypes: Keratoderma, palmoplantar, punctate type IA (MIM#148600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AAGAB",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:25:06.676613+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:25:06.665425+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:25:01.009956+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIAPH1 as Green List (high evidence)",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:25:00.996333+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:24:38.977786+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DIAPH1 were set to 26912466; 27808407]\nPhenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM#\t124900\nReview for gene: DIAPH1 was set to GREEN\nAdded comment: At least four unrelated families reported. \nSources: Expert list",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:20:16.826731+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYCS as ready",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:20:16.817078+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cycs has been classified as Green List (High Evidence).",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:20:06.005825+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYCS as Green List (high evidence)",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:20:05.987927+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cycs has been classified as Green List (High Evidence).",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:19:40.472099+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYCS was added\ngene: CYCS was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYCS were set to 24326104; 18345000; 30051457\nPhenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM#\t612004\nReview for gene: CYCS was set to GREEN\nAdded comment: At least three families reported. \nSources: Expert list",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:16:35.946840+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL5A2 as ready",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:16:35.935543+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:16:32.947906+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A2 were changed from to Ehlers-Danlos syndrome, classic type, 2, MIM# 130010",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:16:05.793688+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL5A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:15:45.838712+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL5A2 as Amber List (moderate evidence)",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:15:45.829039+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:15:18.929794+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM# 130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:13:47.614522+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL5A1 as ready",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:13:47.604389+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:13:45.397472+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, MIM# 130000",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:13:19.031798+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:12:58.635157+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL5A1 as Amber List (moderate evidence)",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:12:58.625331+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T20:12:32.489663+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, MIM# 130000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:54:06.962559+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL3A1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:53:22.989065+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:53:22.979875+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:53:06.092165+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:52:39.964657+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:52:11.027245+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:46:22.216113+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST14 as ready",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:46:22.205789+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Green List (High Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:46:18.499746+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST14 as Green List (high evidence)",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:46:18.489896+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Green List (High Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:45:11.451155+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST14 was added\ngene: CHST14 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#\t601776\nReview for gene: CHST14 was set to GREEN\nAdded comment: Large haematomas are a feature. \nSources: Expert list",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:43:02.392023+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC42 as ready",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:43:02.382705+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc42 has been classified as Green List (High Evidence).",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:42:58.862807+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC42 as Green List (high evidence)",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:42:58.854134+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc42 has been classified as Green List (High Evidence).",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:42:26.051277+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC42 was added\ngene: CDC42 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC42 were set to 29394990\nPhenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737\nReview for gene: CDC42 was set to GREEN\nAdded comment: Well established gene-disease association. Macrothrombocytopaenia is a feature. \nSources: Expert list",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:35:53.294762+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBS as ready",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:35:53.282389+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Red List (Low Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:35:50.808699+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBS were changed from to Thrombosis, hyperhomocysteinemic, MIM# 236200; Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:35:21.102407+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:33:36.060943+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBS as Red List (low evidence)",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:33:36.043438+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbs has been classified as Red List (Low Evidence).",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-11T18:33:10.378253+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombosis, hyperhomocysteinemic, MIM# 236200, Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:48:26.554384+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S6 as ready",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:48:26.536088+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:48:19.814809+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Green List (high evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:48:19.806245+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:47:56.806704+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S6 was added\ngene: BLOC1S6 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S6 were set to 32245340; 22461475\nPhenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM#\t614171\nReview for gene: BLOC1S6 was set to GREEN\nAdded comment: At least three unrelated families reported. \nSources: Expert list",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:38:15.161004+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARPC1B as ready",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:38:15.151128+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:38:11.916920+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARPC1B as Green List (high evidence)",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:38:11.906673+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:37:45.961579+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARPC1B was added\ngene: ARPC1B was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARPC1B were set to 28368018; 27965109; 29127144; 30254128\nPhenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#\t617718\nReview for gene: ARPC1B was set to GREEN\nAdded comment: At least 9 unrelated families reported. \nSources: Expert list",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:09:57.730947+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD26 as ready",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:09:57.721884+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd26 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:09:54.184314+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:09:40.626242+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD26 as Green List (high evidence)",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:09:40.617575+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd26 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:09:19.290373+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD26 was added\ngene: ANKRD26 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD26 were set to 21211618\nPhenotypes for gene: ANKRD26 were set to Thrombocytopenia 2, MIM#\t188000\nReview for gene: ANKRD26 was set to GREEN\nAdded comment: Note promoter variants. \nSources: Expert list",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:07:08.118672+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS13 as ready",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:07:08.108080+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:07:03.608279+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS13 as Green List (high evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:07:03.598010+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:06:36.790944+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ADAMTS13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAMTS13 were set to 11586351\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM#\t274150\nReview for gene: ADAMTS13 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:04:14.208819+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:04:14.198637+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:04:11.126038+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACVRL1 as Green List (high evidence)",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:04:11.117908+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:03:47.864715+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#\t600376\nReview for gene: ACVRL1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:01:25.747103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTN1 as ready",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:01:25.737918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actn1 has been classified as Green List (High Evidence).",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:01:14.636710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN1 were changed from to Bleeding disorder, platelet-type, 15, MIM# 615193",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2020-08-11T13:00:57.522692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTN1 were set to ",
"entity_name": "ACTN1",
"entity_type": "gene"
}
]
}