HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220925,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1958",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1956",
"results": [
{
"created": "2020-01-28T17:15:50.042405+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JUP as Amber List (moderate evidence)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-01-28T17:15:50.030944+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Amber List (Moderate Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-01-28T17:05:44.220220+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-28T17:04:03.971246+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 6 MIM#618084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLG2",
"entity_type": "gene"
},
{
"created": "2020-01-28T16:51:00.088714+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: 21320868, 29173316; Phenotypes: Naxos disease MIM#601214, Congenital epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-01-28T15:23:11.703561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1C2 as ready",
"entity_name": "ATP6V1C2",
"entity_type": "gene"
},
{
"created": "2020-01-28T15:23:11.696525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1c2 has been classified as Red List (Low Evidence).",
"entity_name": "ATP6V1C2",
"entity_type": "gene"
},
{
"created": "2020-01-28T15:23:00.549056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1C2 was added\ngene: ATP6V1C2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1C2 were set to 31959358\nPhenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis\nReview for gene: ATP6V1C2 was set to RED\nAdded comment: Single family reported, limited functional data. \nSources: Literature",
"entity_name": "ATP6V1C2",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:50:20.530522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1D were changed from Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:50:16.096628+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1D as ready",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:50:16.087216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Green List (High Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:49:47.678741+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; intellectual disability; autism; epilepsy",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:49:14.927791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1D were set to ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:48:41.692696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:47:52.314484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31921405, 28472301, 25620733; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, intellectual disability, autism, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:32:28.015778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD11 as ready",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:32:28.007838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:32:18.394948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD11 were set to ",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:31:38.618114+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD11 were changed from KBG syndrome, MIM # 148050 to KBG syndrome, MIM # 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:31:31.737787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD11 as ready",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:31:31.729303+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:31:05.819553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:30:32.645510+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:29:16.269752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM # 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:28:10.139837+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:26:58.023712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGGF1 as ready",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:26:58.015287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aggf1 has been classified as Red List (Low Evidence).",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:26:39.724111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGGF1 as Red List (low evidence)",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:26:39.715616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aggf1 has been classified as Red List (Low Evidence).",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:26:21.254057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AGGF1",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:21:10.331752+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Amber List (moderate evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:21:10.324358+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:21:02.303787+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOTCH3 was added\ngene: NOTCH3 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOTCH3 were set to 19855400; 31868216; 24936512\nPhenotypes for gene: NOTCH3 were set to Pulmonary arterial hypertension\nMode of pathogenicity for gene: NOTCH3 was set to Other\nReview for gene: NOTCH3 was set to AMBER\nAdded comment: Mice with homozygous deletion of Notch3 do not develop pulmonary hypertension in response to hypoxic stimulation, and pulmonary hypertension can be successfully treated in mice by administration of DAPT, a gamma-secretase inhibitor that blocks activation of Notch3 in smooth muscle cells. Suggesting a gain-of-function mechanism. Two putative gain-of-function missense identified in two PAH cases. \nSources: Literature",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2020-01-28T12:10:05.868505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.996",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31191201, 31337854; Phenotypes: KBG syndrome (MIM # 148050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:59:36.552246+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BMP10 as Amber List (moderate evidence)",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:59:36.537647+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bmp10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:59:28.730127+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMP10 was added\ngene: BMP10 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMP10 were set to 30578383\nPhenotypes for gene: BMP10 were set to Pulmonary arterial hypertension\nReview for gene: BMP10 was set to AMBER\nAdded comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients. \nSources: Literature",
"entity_name": "BMP10",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:54:42.404461+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMAD4 as Amber List (moderate evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:54:42.401146+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two reported cases with PAH",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:54:42.377040+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:54:20.026760+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMAD4 were set to 21898662\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension\nReview for gene: SMAD4 was set to AMBER\nAdded comment: A missense with reduced in vitro signalling activity and a putative splice site mutation resulting in moderate transcript loss due to compromised splicing efficiency were identified in two PAH cases. \nSources: Literature",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:48:40.109135+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SMAD1 as Amber List (moderate evidence)",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:48:40.101822+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: smad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:48:16.555196+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD1 was added\ngene: SMAD1 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMAD1 were set to 21898662; 23478097\nPhenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension\nReview for gene: SMAD1 was set to AMBER\nAdded comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension. \nSources: Literature",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:40:57.474303+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: None; Publications: 31913656, 30161219; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:40:08.444517+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:39:46.489192+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: G6PD as Amber List (moderate evidence)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:39:46.482187+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Amber List (Moderate Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:39:31.819234+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: G6PD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:38:52.010484+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: G6PD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: G6PD were set to 31913656; 30161219\nPhenotypes for gene: G6PD were set to Pulmonary arterial hypertension\nReview for gene: G6PD was set to AMBER\nAdded comment: One idiopathic PAH case had a missense that resulted in severe G6PD deficiency and another case had a missense associated with a 20% decrease in G6PD function. Inhibition of G6PD activity with a potent G6PD inhibitor, decreased haematopoietic stem cells in hypoxic mice, causing pulmonary hypertension. \nSources: Literature",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:29:25.131836+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLF2 was added\ngene: KLF2 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KLF2 were set to 28188237\nPhenotypes for gene: KLF2 were set to Pulmonary arterial hypertension\nReview for gene: KLF2 was set to RED\nAdded comment: A missense variant reported in a single PAH family. \nSources: Literature",
"entity_name": "KLF2",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:26:48.912766+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BRAP was added\ngene: BRAP was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BRAP were set to 30703135\nPhenotypes for gene: BRAP were set to Pulmonary arterial hypertension\nReview for gene: BRAP was set to AMBER\nAdded comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function. \nSources: Literature",
"entity_name": "BRAP",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:20:58.619045+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCC8 as Green List (high evidence)",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:20:58.612114+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcc8 has been classified as Green List (High Evidence).",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:20:47.648745+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ABCC8 were set to 31406341; 30354297\nPhenotypes for gene: ABCC8 were set to Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension\nReview for gene: ABCC8 was set to GREEN\nAdded comment: Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene. \nSources: Literature",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:09:43.647727+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SOX17 as Green List (high evidence)",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:09:43.640235+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sox17 has been classified as Green List (High Evidence).",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:09:32.954327+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:00:56.250709+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GDF2 as Green List (high evidence)",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:00:56.239292+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gdf2 has been classified as Green List (High Evidence).",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-01-28T11:00:47.170789+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31661308; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: None",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:50:05.301974+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ENG as Green List (high evidence)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:50:05.294253+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:49:51.581023+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30336550; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:42:19.438903+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: Other; Publications: 22374147; Phenotypes: Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:25:45.570918+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP13A3 as Green List (high evidence)",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:25:45.563533+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp13a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:25:36.355405+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31798832, 30679663, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:12:52.772934+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AQP1 as Green List (high evidence)",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:12:52.765923+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aqp1 has been classified as Green List (High Evidence).",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-01-28T10:12:44.772733+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683574, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2020-01-28T09:54:57.418522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCN2 were set to ",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-28T09:54:40.238011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCN2 were changed from to Genetic epilepsy with febrile seizures plus; Other seizure disorders",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-28T09:54:02.867898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-28T09:53:43.285006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HCN2 as Green List (high evidence)",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-28T09:53:43.277091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hcn2 has been classified as Green List (High Evidence).",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-28T09:53:24.185892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HCN2: Added comment: Further cases identified. Evidence for both mono-allelic and bi-allelic variants causing disease; also evidence for both GoF and LoF as mechanism.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874; Changed phenotypes: Genetic epilepsy with febrile seizures plus, Other seizure disorders; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:40:09.499856+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL3 as ready",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:40:09.491662+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:39:58.881381+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL3 were changed from to Epileptic encephalopathy, early infantile, 15 , MIM#615006",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:39:22.298457+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL3 were set to ",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:38:49.078221+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:38:14.787575+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST3GAL3 as Amber List (moderate evidence)",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:38:14.780098+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:35:59.242597+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASAH1 as ready",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:35:59.234598+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asah1 has been classified as Green List (High Evidence).",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:11:42.307906+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDOB as Red List (low evidence)",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:11:42.300499+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Red List (Low Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-01-27T20:10:55.765552+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALDOB: Added comment: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; Changed rating: RED",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:17:16.013014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTBP1 as ready",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:17:16.005777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctbp1 has been classified as Green List (High Evidence).",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:17:03.496730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTBP1 as Green List (high evidence)",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:17:03.488745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctbp1 has been classified as Green List (High Evidence).",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:16:45.702317+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTBP1 was added\ngene: CTBP1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTBP1 were set to 27094857; 28955726; 31041561\nPhenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915\nReview for gene: CTBP1 was set to GREEN\ngene: CTBP1 was marked as current diagnostic\nAdded comment: At least 12 unrelated individuals reported with this neurodevelopmental disorder. \nSources: Expert list",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:15:12.957705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTBP1 as Green List (high evidence)",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:15:12.949848+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctbp1 has been classified as Green List (High Evidence).",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:15:07.695957+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTBP1 as ready",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:15:07.686868+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctbp1 has been classified as Green List (High Evidence).",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:14:39.250578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTBP1 as Green List (high evidence)",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2020-01-27T17:14:39.243589+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctbp1 has been classified as Green List (High Evidence).",
"entity_name": "CTBP1",
"entity_type": "gene"
}
]
}