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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1784",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1782",
"results": [
{
"created": "2020-05-30T10:32:10.293340+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCND2 as ready",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2020-05-30T10:32:10.279887+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccnd2 has been classified as Green List (High Evidence).",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2020-05-30T10:31:36.408213+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCND2 as Green List (high evidence)",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2020-05-30T10:31:36.399212+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccnd2 has been classified as Green List (High Evidence).",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2020-05-30T10:30:58.531479+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCND2 was added\ngene: CCND2 was added to Polymicrogyria and Schizencephaly. Sources: Expert list\nMode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCND2 were set to 24705253\nPhenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938\nMode of pathogenicity for gene: CCND2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CCND2 was set to GREEN\nAdded comment: Polymicrogyria is a prominent feature of the condition. At least 12 cases with de novo or parental mosaic missense with expected gain of function. \nSources: Expert list",
"entity_name": "CCND2",
"entity_type": "gene"
},
{
"created": "2020-05-30T10:18:51.004153+10:00",
"panel_name": "Malformations of cortical development Superpanel",
"panel_id": 3136,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Microcephaly; Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Cobblestone Malformations",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-29T20:55:58.066779+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM22 as Amber List (moderate evidence)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:55:58.052405+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:55:07.865239+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM22 as ready",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:55:07.851216+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Red List (Low Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:51:31.165473+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAX as ready",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:51:31.153934+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rax has been classified as Red List (Low Evidence).",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:49:39.244284+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA8 as ready",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:49:39.235361+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba8 has been classified as Red List (Low Evidence).",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:48:25.828855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XIST as ready",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:48:25.816540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xist has been classified as Green List (High Evidence).",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:48:13.195704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XIST were changed from to X-inactivation, familial skewed, MIM# 300087",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:47:32.792161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XIST was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:47:13.298556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XIST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-inactivation, familial skewed, MIM# 300087; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:46:08.154722+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XIST as ready",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:46:08.142846+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xist has been classified as Red List (Low Evidence).",
"entity_name": "XIST",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:45:14.063180+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WFS1 as ready",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:45:14.053677+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wfs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:44:20.142119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM10 as ready",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:44:20.128952+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm10 has been classified as Green List (High Evidence).",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:44:14.773926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM10 were changed from to TARP syndrome, 311900 (3), X-linked recessive",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:43:47.421330+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM10 were set to ",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:43:18.730656+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:42:20.051098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE2 as ready",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:42:20.038604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne2 has been classified as Red List (Low Evidence).",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:42:11.446572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE2 were changed from to Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2020-05-29T20:41:51.591789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE2 were set to ",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2020-05-29T19:19:09.474089+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2652",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 24259342, 24000153, 30462380; Phenotypes: TARP syndrome, 311900 (3), X-linked recessive; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:24:51.651738+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: YARS2 as ready",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:24:51.636279+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: yars2 has been classified as Green List (High Evidence).",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:24:47.530653+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: YARS2 as Green List (high evidence)",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:24:47.516693+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: yars2 has been classified as Green List (High Evidence).",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:24:39.886723+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: YARS2 was added\ngene: YARS2 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YARS2 were set to 28395030\nPhenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561\nReview for gene: YARS2 was set to GREEN\nAdded comment: Exercise intolerance is a prominent presenting feature of the condition. \nSources: Expert list",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:18:56.994137+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Cannot find any evidence that rhabdomyolysis is a feature of the condition. This condition has features of a visceral myopathy.; to: Cannot find any evidence that rhabdomyolysis is a feature of the condition. One case reported with exercise intolerance as a presenting feature of the condition.",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:18:17.806972+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TYMP: Changed publications: 24199812",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-05-29T18:11:07.121409+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTN were set to 31353864\nPhenotypes for gene: TTN were set to Congenital titinopathy; exercise intolerance\nReview for gene: TTN was set to RED\nAdded comment: Exercise intolerance only reported in two cases. \nSources: Expert list",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:52:44.260210+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TSFM: Changed rating: RED",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:52:34.383721+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TSFM: Changed rating: AMBER; Changed publications: 31267352, 17033963",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:46:27.928813+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TSEN54: Changed publications: 23177318; Changed phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:46:02.202778+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Cannot find any evidence that rhabdomyolysis is a feature of the condition. Hypertonia reported which is neurogenic.; to: Single case reported with recurrent rhabdomyolysis and PCH with a homozygous variant.",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:09:40.583395+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TNNT1 as ready",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:09:40.570368+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:09:24.025450+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNNT1 as Amber List (moderate evidence)",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:09:24.016826+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2020-05-29T17:08:57.582234+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNT1 was added\ngene: TNNT1 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNNT1 were set to 31970803\nPhenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type\tMIM#605355\nReview for gene: TNNT1 was set to AMBER\nAdded comment: 4 individuals belonging to 3 apparently unrelated families of French Canadian ancestry\r\nharbouring a novel homozygous TNNT1 (NM_003283.6:c.287T>C; p.Leu96Pro) missense with recurrent episodes of rhabdomyolysis. \nSources: Expert list",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2020-05-29T16:57:08.122129+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAZ as Green List (high evidence)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-05-29T16:57:08.112983+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-05-29T16:56:59.662029+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAZ was added\ngene: TAZ was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TAZ were set to 26845103\nPhenotypes for gene: TAZ were set to Barth syndrome MIM#302060\nReview for gene: TAZ was set to GREEN\nAdded comment: Exercise intolerance is a prominent feature of the condition. \nSources: Expert list",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-05-29T16:44:29.442958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2928",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SYNE2 as Red List (low evidence)",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2020-05-29T16:44:29.431955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2928",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: syne2 has been classified as Red List (Low Evidence).",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2020-05-29T16:44:05.952404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2927",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: None; Publications: 32184094, 17761684; Phenotypes: Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999; Mode of inheritance: None",
"entity_name": "SYNE2",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:42:45.843969+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A20 was added\ngene: SLC25A20 was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A20 were set to 24088670\nPhenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138\nReview for gene: SLC25A20 was set to RED\nAdded comment: Single case with rhabdomyolysis with biallelic variants. \nSources: Literature",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:23:19.713123+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC25A4 as ready",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:23:19.699119+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:23:12.029795+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC25A4 as Green List (high evidence)",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:23:12.020754+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc25a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:22:50.786937+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A4 was added\ngene: SLC25A4 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A4 were set to 28823815\nPhenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418\nReview for gene: SLC25A4 was set to GREEN\nAdded comment: Five unrelated cases reported with exercise intolerance as a presenting feature of the condition. \nSources: Expert list",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:08:33.315622+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SGCA as ready",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:08:33.303092+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgca has been classified as Green List (High Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:08:28.628480+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SGCA as Green List (high evidence)",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:08:28.619577+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgca has been classified as Green List (High Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2020-05-29T15:08:14.740302+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGCA was added\ngene: SGCA was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGCA were set to 27297959; 26453141; 23989969\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099\nReview for gene: SGCA was set to GREEN\nAdded comment: Four unrelated cases reported with rhabdomyolysis or exercise intolerance. \nSources: Expert list",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2020-05-29T14:44:05.812626+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820\nReview for gene: KCNJ11 was set to RED\nAdded comment: Single consanguineous family reported with congenital hyperinsulinism and rhabdomyolysis \nSources: Literature",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-05-29T14:20:05.075293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2927",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRKAG3 as Amber List (moderate evidence)",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2020-05-29T14:20:05.065605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2927",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prkag3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2020-05-29T14:19:45.173298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2926",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PRKAG3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17878938, 10818001; Phenotypes: increased glycogen content in skeletal muscle; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAG3",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:59:30.270142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2926",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phenylketonuria 261600, [Hyperphenylalaninemia, non-PKU mild] 261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:54:11.038783+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:54:11.025463+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:54:05.487423+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HMBS as Amber List (moderate evidence)",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:54:05.478024+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:53:58.009000+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMBS was added\ngene: HMBS was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HMBS were set to 25389600; 18647325\nPhenotypes for gene: HMBS were set to Porphyria, acute intermittent MIM#176000\nReview for gene: HMBS was set to AMBER\nAdded comment: Two cases reported with rhabdomyolysis. \nSources: Literature",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:45:38.022198+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FDX2 as ready",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:45:38.008094+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Green List (High Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:45:30.202003+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FDX2 as Green List (high evidence)",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:45:30.192868+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fdx2 has been classified as Green List (High Evidence).",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:45:21.131979+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FDX2 was added\ngene: FDX2 was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDX2 were set to 24281368; 30010796; 28803783\nPhenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900\nReview for gene: FDX2 was set to GREEN\nAdded comment: Three unrelated cases reported with rhabdomyolysis/myoglobinuria. \nSources: Literature",
"entity_name": "FDX2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:30:13.944563+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DGUOK were set to 23043144\nPhenotypes for gene: DGUOK were set to Rhabdomyolisis; lower limb weakness\nReview for gene: DGUOK was set to RED\nAdded comment: Single case reported with rhabdomyolysis \nSources: Literature",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:14:40.951326+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CASQ1 as ready",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:14:40.942734+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: casq1 has been classified as Green List (High Evidence).",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:14:36.424701+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CASQ1 as Green List (high evidence)",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:14:36.412435+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: casq1 has been classified as Green List (High Evidence).",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:14:29.062878+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CASQ1 was added\ngene: CASQ1 was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASQ1 were set to 30258016\nPhenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates MIM#616231\nReview for gene: CASQ1 was set to GREEN\nAdded comment: Exercise intolerance has been reported as the presenting symptom in at least 5 cases, mainly with the described founder mutation (p.Asp244Gly). \nSources: Literature",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:04:25.748832+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PNPLA2 as ready",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:04:25.737008+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnpla2 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:04:05.891168+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PNPLA2 as Green List (high evidence)",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:04:05.882226+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnpla2 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-05-29T13:03:31.350685+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNPLA2 was added\ngene: PNPLA2 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA2 were set to 18952067; 25287355; 25956450\nPhenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy\tMIM#610717\nReview for gene: PNPLA2 was set to GREEN\nAdded comment: Three unrelated families reported with exercise intolerance as a presenting feature of the condition. \nSources: Expert list",
"entity_name": "PNPLA2",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:20:38.402478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO5 as ready",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:20:38.389941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ano5 has been classified as Green List (High Evidence).",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:20:23.597496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANO5 were set to ",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:19:52.888111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANO5 were changed from to Gnathodiaphyseal dysplasia MIM#166260; Miyoshi muscular dystrophy 3 MIM#613319; Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:18:29.881007+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to Rhabdomyolysis RMH. Sources: Literature\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMACR were set to 20921516\nPhenotypes for gene: AMACR were set to rhabdomyolysis\nReview for gene: AMACR was set to RED\nAdded comment: Single case with rahbdomyolysis reported, with a homozygous missense \nSources: Literature",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:18:17.264445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:17:27.085095+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT1B as ready",
"entity_name": "CPT1B",
"entity_type": "gene"
}
]
}