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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1512",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1510",
"results": [
{
"created": "2020-11-04T15:36:17.474344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GIGYF1 as ready",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:36:17.464900+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gigyf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:36:10.914204+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GIGYF1 as Amber List (moderate evidence)",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:36:10.903237+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gigyf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:34:50.704198+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GIGYF1 was added\ngene: GIGYF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GIGYF1 were set to 33057194\nPhenotypes for gene: GIGYF1 were set to Developmental disorder\nReview for gene: GIGYF1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 14 de novo variants (4 frameshift, 5 missense, 1 splice donor, 3 stopgain, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating). \nSources: Literature",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T13:46:53.419438+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: STUB1 as Green List (high evidence)",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T13:46:53.412047+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stub1 has been classified as Green List (High Evidence).",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T13:46:21.206709+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: STUB1: Changed phenotypes: Spinocerebellar ataxia 48 MIM#618093, cognitive impairment, Spinocerebellar ataxia, autosomal recessive 16 MIM#615768; Set current diagnostic: yes",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T13:46:00.566073+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STUB1 was added\ngene: STUB1 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: STUB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STUB1 were set to 32713943\nPhenotypes for gene: STUB1 were set to Spinocerebellar ataxia 48 MIM#618093; cognitive impairment; Spinocerebellar ataxia, autosomal recessive 16\tMIM#615768\nReview for gene: STUB1 was set to GREEN\nAdded comment: Cognitive impairment can be a feature of conditions caused by this gene. Cognitive impairment, mostly dysexecutive, was observed and sometimes predominant in 54% (26/48) of cases with dominant (mainly) or recessive ataxia and pathogenic variants in STUB1. No STUB1 variants were found in 115 patients with FTD. \nSources: Expert list",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:15:27.517484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP2S1 as ready",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:15:27.505952+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:15:20.731637+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP2S1 as Amber List (moderate evidence)",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:15:20.721333+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:14:46.040761+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP2S1 was added\ngene: AP2S1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AP2S1 were set to 33057194\nPhenotypes for gene: AP2S1 were set to Developmental disorder\nReview for gene: AP2S1 was set to AMBER\nAdded comment: Established hypercalcaemia gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 5 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating). \nSources: Literature",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:12:56.582063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to ",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:10:42.480796+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGAP35 as ready",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:10:42.473458+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:10:35.802599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP2S1 as ready",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:10:35.791969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Green List (High Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:10:26.924712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III MIM#600740 to Hypocalciuric hypercalcemia, type III MIM#600740; Developmental disorder",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:09:31.391538+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGAP35 as Amber List (moderate evidence)",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:09:31.381659+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgap35 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:08:46.461060+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGAP35 was added\ngene: ARHGAP35 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGAP35 were set to 33057194\nPhenotypes for gene: ARHGAP35 were set to Developmental disorder\nReview for gene: ARHGAP35 was set to AMBER\nAdded comment: Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 16 de novo variants (3 frameshift, 2 in-frame, 10 missense, 1 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "ARHGAP35",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:04:31.545555+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A1 as ready",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:04:31.534960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:04:25.924845+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0A1 as Amber List (moderate evidence)",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:04:25.917214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:03:29.018887+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A1 was added\ngene: ATP6V0A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0A1 were set to 30842224; 33057194\nPhenotypes for gene: ATP6V0A1 were set to Developmental disorder; Rett syndrome-like\nReview for gene: ATP6V0A1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 11 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).\r\nPMID: 30842224 - identified a de novo missense variant in a single individual with atypical Rett syndrome phenotype \nSources: Literature",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:01:52.786716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX23 as ready",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:01:52.778557+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:01:45.344562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX23 as Amber List (moderate evidence)",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-11-04T10:01:45.334318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-11-04T09:55:37.109107+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX23 was added\ngene: DDX23 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DDX23 were set to 33057194\nPhenotypes for gene: DDX23 were set to Developmental disorder\nReview for gene: DDX23 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 6 de novo missense identified in ~10,000 cases with developmental disorders. Rated Amber as no other phenotype info provided. \nSources: Literature",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2020-11-04T08:12:16.519501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD8 as ready",
"entity_name": "CARD8",
"entity_type": "gene"
},
{
"created": "2020-11-04T08:12:16.509769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card8 has been classified as Red List (Low Evidence).",
"entity_name": "CARD8",
"entity_type": "gene"
},
{
"created": "2020-11-04T08:12:04.321105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD8 was added\ngene: CARD8 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CARD8 were set to 29408806\nPhenotypes for gene: CARD8 were set to Inflammatory bowel disease-30, MIM#619079\nReview for gene: CARD8 was set to RED\nAdded comment: Two individuals from one family reported segregating a missense variant, dominant negative effect postulated. \nSources: Expert list",
"entity_name": "CARD8",
"entity_type": "gene"
},
{
"created": "2020-11-04T08:10:24.692835+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD8 as ready",
"entity_name": "CARD8",
"entity_type": "gene"
},
{
"created": "2020-11-04T08:10:24.681675+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card8 has been classified as Red List (Low Evidence).",
"entity_name": "CARD8",
"entity_type": "gene"
},
{
"created": "2020-11-04T08:10:17.987626+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD8 was added\ngene: CARD8 was added to Inflammatory bowel disease. Sources: Expert list\nMode of inheritance for gene: CARD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CARD8 were set to 29408806\nPhenotypes for gene: CARD8 were set to Inflammatory bowel disease-30, MIM#619079\nReview for gene: CARD8 was set to RED\nAdded comment: Two individuals from one family reported segregating a missense variant, dominant negative effect postulated. \nSources: Expert list",
"entity_name": "CARD8",
"entity_type": "gene"
},
{
"created": "2020-11-03T19:05:51.650321+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intrahepatic cholestasis and liver failure in infancy. \nSources: Expert list; to: Intrahepatic cholestasis and liver failure in infancy, at least three families and mouse model.\r\nSources: Expert list",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-11-03T19:05:36.563506+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-11-03T19:05:36.555363+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-11-03T19:05:32.628037+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMACR as Green List (high evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-11-03T19:05:32.620088+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-11-03T19:05:24.435996+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMACR were set to 31951345; 24735479; 12512044; 10655068\nPhenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4, MIM#\t214950\nReview for gene: AMACR was set to GREEN\nAdded comment: Intrahepatic cholestasis and liver failure in infancy. \nSources: Expert list",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:59:53.989257+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:59:53.977871+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:59:40.890858+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HADHB as Green List (high evidence)",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:59:40.868804+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:59:33.219682+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM#\t609015\nReview for gene: HADHB was set to GREEN\nAdded comment: Trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. \nSources: Expert list",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:58:28.632021+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:58:28.623952+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:58:23.423465+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HADHA as Green List (high evidence)",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:58:23.411566+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-11-03T18:58:15.309791+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#\t609015\nReview for gene: HADHA was set to GREEN\nAdded comment: Trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. \nSources: Expert list",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2020-11-03T17:04:06.506941+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "commented on gene: UGT1A1",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:57:47.775350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA1 were changed from Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 to Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830; Autoinflammatory disease, adult onset: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:57:26.872950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:56:53.277802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBA1: Added comment: Association with VEXAS: 25 men reported with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation, and an often fatal, treatment-refractory inflammatory syndrome develops in late adulthood, with fevers, cytopaenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis.; Changed publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 33108101; Changed phenotypes: Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830, Autoinflammatory disease, adult onset: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:56:05.909858+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBA1: Changed publications: 33108101",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:55:07.816673+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA1 as ready",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:55:07.808438+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba1 has been classified as Green List (High Evidence).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:55:02.424741+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: UBA1.",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:54:55.919990+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA1 as Green List (high evidence)",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:54:55.912441+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba1 has been classified as Green List (High Evidence).",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:54:25.859776+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBA1 was added\ngene: UBA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: UBA1 was set to Other\nPhenotypes for gene: UBA1 were set to Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)\nReview for gene: UBA1 was set to GREEN\nAdded comment: 25 men reported with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation, and an often fatal, treatment-refractory inflammatory syndrome develops in late adulthood, with fevers, cytopaenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis. \nSources: Literature",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:23:13.536118+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBE1 as ready",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:23:13.525216+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:23:01.648327+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GBE1 as Green List (high evidence)",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:23:01.631979+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Green List (High Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:22:52.381866+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV, MIM#\t232500\nReview for gene: GBE1 was set to GREEN\nAdded comment: Typically presents with liver disease in childhood, progressing to cirrhosis. \nSources: Expert list",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:20:12.370161+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRM2 as ready",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:20:12.358797+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:20:01.714806+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRM2 as Amber List (moderate evidence)",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:20:01.693389+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:19:52.595612+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRM2 was added\ngene: MRM2 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRM2 were set to 28973171\nPhenotypes for gene: MRM2 were set to Mitochondrial DNA depletion syndrome 17, MIM#\t618567\nReview for gene: MRM2 was set to AMBER\nAdded comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.\r\n\r\nRecurrent episodes of liver failure were part of the clinical course. \nSources: Expert list",
"entity_name": "MRM2",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:07:46.563585+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:07:46.549658+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:07:38.117104+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALMS1 as Green List (high evidence)",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:07:38.109603+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:07:28.848471+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALMS1 were set to 25296579\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome, MIM#\t203800\nReview for gene: ALMS1 was set to GREEN\nAdded comment: Autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age.\r\n\r\nChronic active hepatitis, hepatomegaly, steatosis, and cirrhosis all reported. \nSources: Expert list",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:01:21.424169+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYC1 as ready",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:01:21.415810+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyc1 has been classified as Red List (Low Evidence).",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2020-11-03T16:01:14.303023+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYC1 was added\ngene: CYC1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYC1 were set to 23910460\nPhenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, MIM#\t615453\nReview for gene: CYC1 was set to RED\nAdded comment: Two families reported, of these episodes of acute liver failure reported in one proband. \nSources: Expert list",
"entity_name": "CYC1",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:10:10.641120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZFHX4 as ready",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:10:10.625336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zfhx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:09:59.967770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ZFHX4 were set to 33057194",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:07:03.344433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZFHX4 as Amber List (moderate evidence)",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:07:03.335177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zfhx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:06:41.334113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ZFHX4: Changed publications: 33057194, 24038936",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:06:24.123427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature; to: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \r\nPMID: 24038936 - a single case with developmental delay, macrocephaly, ventriculomegaly, hypermetropia, recurrent\r\ninfections, dysmorphism and a de novo deletion of the last 7 exons of the gene.\r\nSources: Literature",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:03:28.237658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ZFHX4: Changed phenotypes: Developmental disorders, intellectual disability, dysmorphic features",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:01:02.353588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ZFHX4: Changed rating: AMBER",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T12:00:45.297548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5315",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFHX4 was added\ngene: ZFHX4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFHX4 were set to 33057194\nPhenotypes for gene: ZFHX4 were set to Developmental disorders\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:56:30.542065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UPF1 as ready",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:56:30.527693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: upf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:56:09.659545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UPF1 as Amber List (moderate evidence)",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:56:09.648576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: upf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:55:50.354864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UPF1 was added\ngene: UPF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UPF1 were set to 33057194\nPhenotypes for gene: UPF1 were set to Developmental disorders\nReview for gene: UPF1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (1 frameshift, 11 missense, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-03T11:46:50.473666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: U2AF2 as Amber List (moderate evidence)",
"entity_name": "U2AF2",
"entity_type": "gene"
}
]
}