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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1929",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1927",
"results": [
{
"created": "2020-02-12T21:32:34.069052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:30:30.553283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHG2 as Amber List (moderate evidence)",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:30:30.540444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:30:06.536398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLEKHG2: Added comment: Further family identified, promote to Amber.; Changed rating: AMBER; Changed publications: 26539891, 24001768, 26573021; Changed phenotypes: Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:29:12.517462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHG2 as Amber List (moderate evidence)",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:29:12.504295+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekhg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:28:34.359174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEKHG2 was added\ngene: PLEKHG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHG2 were set to 26539891; 24001768; 26573021\nPhenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia, 616763\nReview for gene: PLEKHG2 was set to AMBER\nAdded comment: Three families reported; however, two had the same homozygous variant (founder effect). \nSources: Expert list",
"entity_name": "PLEKHG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:22:28.135443+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TSFM as Red List (low evidence)",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:22:28.121962+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Red List (Low Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:21:49.491718+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: None; Publications: 31267352; Phenotypes: Combined oxidative phosphorylation deficiency 3 MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-02-12T21:02:33.540626+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:42:26.393430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITRM1 as ready",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:42:26.379667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:42:08.547501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PITRM1 as Green List (high evidence)",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:42:08.539029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:41:48.280424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PITRM1 was added\ngene: PITRM1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PITRM1 were set to 26697887; 29764912; 29383861\nPhenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability\nReview for gene: PITRM1 was set to GREEN\ngene: PITRM1 was marked as current diagnostic\nAdded comment: Three unrelated families reported with bi-allelic variants in this gene. \nSources: Expert list",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:39:22.211817+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITRM1 as ready",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:39:22.198460+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:39:12.272562+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PITRM1 as Green List (high evidence)",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:39:12.263766+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitrm1 has been classified as Green List (High Evidence).",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:38:38.487111+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PITRM1 was added\ngene: PITRM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PITRM1 were set to 26697887; 29764912; 29383861\nPhenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability\nReview for gene: PITRM1 was set to GREEN\ngene: PITRM1 was marked as current diagnostic\nAdded comment: Three unrelated families reported with bi-allelic variants in this gene. \nSources: Expert list",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:27:53.698892+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3C2A as ready",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:27:53.684802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:27:44.192282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3C2A as Green List (high evidence)",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:27:44.183721+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3c2a has been classified as Green List (High Evidence).",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:25:39.161593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3C2A was added\ngene: PIK3C2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3C2A were set to 31034465\nPhenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, 618440\nReview for gene: PIK3C2A was set to GREEN\nAdded comment: Three unrelated families, ID is part of the phenotype. \nSources: Expert list",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:10:30.862730+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TSEN54 as Red List (low evidence)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:10:30.854091+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Red List (Low Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-02-12T20:10:20.368551+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-02-12T19:12:13.965237+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SUCLA2 as Red List (low evidence)",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-02-12T19:12:13.952901+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Red List (Low Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-02-12T19:11:56.706947+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:52:17.742404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:52:17.729459+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:52:08.470705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from to Encephalopathy, neonatal severe 300673 XLR; Mental retardation, X-linked, syndromic 13 300055 XLR; Rett syndrome 312750 XLD",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:46:10.963125+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECP2 were set to ",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:45:36.288372+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECP2 was changed from Unknown to Other",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:01:26.478464+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRKAG2 as Red List (low evidence)",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:01:26.462762+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkag2 has been classified as Red List (Low Evidence).",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T18:01:10.068777+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2020-02-12T17:24:08.783074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1345",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: CSGALNACT1 as ready",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2020-02-12T17:24:08.772850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1345",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: csgalnact1 has been classified as Green List (High Evidence).",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2020-02-12T17:23:59.588272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1345",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: CSGALNACT1 as Green List (high evidence)",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2020-02-12T17:23:59.574914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1345",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: csgalnact1 has been classified as Green List (High Evidence).",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2020-02-12T17:23:34.886993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1344",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "gene: CSGALNACT1 was added\ngene: CSGALNACT1 was added to Mendeliome. Sources: Expert Review,Literature\nMode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSGALNACT1 were set to Congenital disorders of glycosylation; skeletal dysplasia; advanced bone age\nReview for gene: CSGALNACT1 was set to GREEN\nAdded comment: Two unrelated families and functional studies \nSources: Expert Review, Literature",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:49:27.355101+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2141",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VARS as Green List (high evidence)",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:49:27.346359+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2141",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vars has been classified as Green List (High Evidence).",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:48:48.859170+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2140",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VARS as Green List (high evidence)",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:48:48.845746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2140",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vars has been classified as Green List (High Evidence).",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:48:09.724951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2139",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: VARS was added\ngene: VARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VARS were set to PubMed: 30755616, 30755602, 26539891, 29691655, 30275004\nPhenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802\nReview for gene: VARS was set to GREEN\nAdded comment: 14 families with 20 affected individuals\r\n- homozygous missense or compound heterozygous mutations in VARS\r\n- mutations segregated with the disorder in the families\r\n- functional studies in some cases \nSources: Expert list",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:32:18.367202+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2138",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Galloway-Mowat syndrome 6, OMIM #618347:\r\n\r\n1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. \r\n\r\n1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. \r\n\r\n1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed. \r\n\r\n\r\n\r\nMicrocephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:\r\n\r\n2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis. \nSources: Expert list; to: Galloway-Mowat syndrome 6, OMIM #618347:\r\n\r\n1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. \r\n\r\n1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. \r\n\r\n1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed. \r\n--------------------------------------------------------------------------------------------------------------------------------------\r\n\r\nMicrocephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:\r\n\r\n2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis. \r\nSources: Expert list",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:31:49.491642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2138",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WDR4 as Green List (high evidence)",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:31:49.482630+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2138",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wdr4 has been classified as Green List (High Evidence).",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:31:16.878904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2137",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WDR4 was added\ngene: WDR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR4 were set to PubMed: 26416026, 30079490, 29597095, 28617965\nPhenotypes for gene: WDR4 were set to Galloway-Mowat syndrome 6, OMIM #618347; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346\nReview for gene: WDR4 was set to GREEN\nAdded comment: Galloway-Mowat syndrome 6, OMIM #618347:\r\n\r\n1 family with 2 sibs with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. \r\n\r\n1 family with 1 child with GMS and compound heterozygous mutations in the WDR4 gene, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. \r\n\r\n1 family with 4 sibs with GMS and homozygous splice site mutation in the WDR4 gene. Functional studies of the variant and studies of patient cells were not performed. \r\n\r\n\r\n\r\nMicrocephaly, growth deficiency, seizures, and brain malformations; OMIM #618346:\r\n\r\n2 unrelated patients with intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Testing found the same homozygous missense mutation in the WDR4 gene, which segregated with the disorder in both families. Studies of patient cells and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis. \nSources: Expert list",
"entity_name": "WDR4",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:14:48.216653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2136",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: XIST as Red List (low evidence)",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:14:48.207771+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2136",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: xist has been classified as Red List (Low Evidence).",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:13:47.105146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: XIST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:11:54.217459+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: YAP1 as Amber List (moderate evidence)",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:11:54.207689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2135",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: yap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:11:21.592088+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2134",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24462371; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM #120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:02:13.789480+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNN1A as ready",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-02-12T15:02:13.780717+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1a has been classified as Green List (High Evidence).",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:59:03.308058+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCNN1A were changed from to ?Liddle syndrome 3 618126 AD; Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:58:35.574161+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCNN1A were set to ",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:58:09.543281+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SCNN1A was changed from to Other",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:57:44.327283+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCNN1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:56:28.060274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13A as ready",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:56:28.045929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:56:18.697826+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13A as ready",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:56:18.689212+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:56:02.418762+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:55:34.307912+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13A were set to ",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:55:05.286948+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:54:58.955293+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2134",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Very clear ID gene.; to: ID is a feature of condition, albeit rare.",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:54:38.153478+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC13A as Red List (low evidence)",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:54:38.144974+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:54:22.062849+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13A were set to ",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:54:09.172467+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:53:42.080420+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.8",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SCNN1A: Rating: ; Mode of pathogenicity: Other; Publications: 31301676, 28710092; Phenotypes: ?Liddle syndrome 3 618126 AD, Bronchiectasis with or without elevated sweat chloride 2 613021 AD, Pseudohypoaldosteronism, type I 264350 AR.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:53:28.364606+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, OMIM #222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:53:15.470268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13A as ready",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:53:15.457098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:53:07.480424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:52:47.261000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13A were set to ",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:52:26.625856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:52:15.693163+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FKTN as Red List (low evidence)",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:52:15.679409+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fktn has been classified as Red List (Low Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:52:07.542693+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:52:06.775844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC13A as Red List (low evidence)",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:52:06.762251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13a has been classified as Red List (Low Evidence).",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:49:54.454353+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VPS37A as Amber List (moderate evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:49:54.446254+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:49:33.301612+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: VPS37A as Amber List (moderate evidence)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:49:33.287588+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2133",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:46:14.755802+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2132",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 31940699, 12833411, 27325888; Phenotypes: Pseudo-TORCH syndrome 2, OMIM #617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:45:18.983695+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Congenital Myasthenic Syndrome_RMH to Congenital Myasthenia",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-12T14:44:00.417127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2132",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301670; Phenotypes: Encephalopathy, neonatal severe 300673 XLR, Mental retardation, X-linked syndromic, Lubs type 300260 XLR, Mental retardation, X-linked, syndromic 13 300055 XLR, Rett syndrome 312750 XLD, Rett syndrome, atypical 312750 XLD, Rett syndrome, preserved speech variant 312750 XLD, {Autism susceptibility, X-linked 3} 300496 XL; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:43:37.774750+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ETFB as Red List (low evidence)",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:43:37.761572+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etfb has been classified as Red List (Low Evidence).",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-02-12T14:43:20.836404+11:00",
"panel_name": "Rhabdomyolysis_RMH",
"panel_id": 3084,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12815589, 7912128; Phenotypes: Glutaric acidemia IIB MIM#231680; Mode of inheritance: None",
"entity_name": "ETFB",
"entity_type": "gene"
}
]
}