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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1785",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1783",
"results": [
{
"created": "2020-05-29T12:17:27.076524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt1b has been classified as Red List (Low Evidence).",
"entity_name": "CPT1B",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:17:07.966277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT1B were set to ",
"entity_name": "CPT1B",
"entity_type": "gene"
},
{
"created": "2020-05-29T12:16:03.253559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT1B was changed from Unknown to Unknown",
"entity_name": "CPT1B",
"entity_type": "gene"
},
{
"created": "2020-05-29T11:38:42.510517+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH3 was added\ngene: MYH3 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH3 were set to 28779239\nPhenotypes for gene: MYH3 were set to paresthesia; rhabdomyolysis\nReview for gene: MYH3 was set to RED\nAdded comment: Single case with rhabdomyolysis reported. \nSources: Expert list",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:48:33.249226+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TWNK as Green List (high evidence)",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:48:33.237841+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:48:26.069086+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TWNK were set to 20880070\nPhenotypes for gene: TWNK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286\nReview for gene: TWNK was set to GREEN\nAdded comment: Exercise intolerance reported as a presenting feature of the condition in at least 5 cases. \nSources: Expert list",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:41:59.632985+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AHCY was added\ngene: AHCY was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHCY were set to 28779239\nPhenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752\nReview for gene: AHCY was set to RED\nAdded comment: Single case reported with rhabdomyolysis \nSources: Expert list",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:36:55.892867+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COQ8A as ready",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:36:55.880693+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:36:51.604461+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COQ8A as Green List (high evidence)",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:36:51.595540+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: coq8a has been classified as Green List (High Evidence).",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2020-05-29T10:36:41.813227+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COQ8A was added\ngene: COQ8A was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ8A were set to 32337771\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 MIM#612016\nReview for gene: COQ8A was set to GREEN\ngene: COQ8A was marked as current diagnostic\nAdded comment: Exercise intolerance is a presenting feature in 25% of cases (out of 59 total). \nSources: Expert list",
"entity_name": "COQ8A",
"entity_type": "gene"
},
{
"created": "2020-05-29T09:50:27.725415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2921",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYF6 as Red List (low evidence)",
"entity_name": "MYF6",
"entity_type": "gene"
},
{
"created": "2020-05-29T09:50:27.713041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2921",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myf6 has been classified as Red List (Low Evidence).",
"entity_name": "MYF6",
"entity_type": "gene"
},
{
"created": "2020-05-29T09:50:04.291974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2920",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MYF6: Rating: RED; Mode of pathogenicity: None; Publications: 11053684; Phenotypes: Centronuclear myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYF6",
"entity_type": "gene"
},
{
"created": "2020-05-29T09:38:36.441605+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2920",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTMR14 as Red List (low evidence)",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-05-29T09:38:36.437484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2920",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: No evidence of Mendelian disease",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-05-29T09:38:36.416629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2920",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mtmr14 has been classified as Red List (Low Evidence).",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-05-29T09:37:48.344020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2919",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MTMR14: Rating: RED; Mode of pathogenicity: None; Publications: 17008356; Phenotypes: {Centronuclear myopathy, autosomal, modifier of} MIM#160150; Mode of inheritance: Unknown",
"entity_name": "MTMR14",
"entity_type": "gene"
},
{
"created": "2020-05-28T19:11:08.255945+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-28T19:11:08.247130+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-28T19:11:03.614475+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GMPPB as Green List (high evidence)",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-28T19:11:03.601637+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-28T19:10:52.238450+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GMPPB was added\ngene: GMPPB was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GMPPB were set to 28456886; 27874200; 25681410\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14\tMIM#615352; Limb myalgia; exercise intolerance; myoglobinuria\nReview for gene: GMPPB was set to GREEN\nAdded comment: Three unrelated cases reported with rhabdomyolysis. \nSources: Expert list",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-05-28T18:15:17.536565+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DNA2 was added\ngene: DNA2 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNA2 were set to 31636600\nPhenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156\nReview for gene: DNA2 was set to RED\nAdded comment: Single case reported with rhabdomyolysis \nSources: Expert list",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2020-05-28T18:03:55.928019+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:CYP2C8 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-28T18:03:34.352062+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP2C8 as No list",
"entity_name": "CYP2C8",
"entity_type": "gene"
},
{
"created": "2020-05-28T18:03:34.342847+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp2c8 has been removed from the panel.",
"entity_name": "CYP2C8",
"entity_type": "gene"
},
{
"created": "2020-05-28T16:40:44.395991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2919",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CPT1B as Red List (low evidence)",
"entity_name": "CPT1B",
"entity_type": "gene"
},
{
"created": "2020-05-28T16:40:44.384786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2919",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cpt1b has been classified as Red List (Low Evidence).",
"entity_name": "CPT1B",
"entity_type": "gene"
},
{
"created": "2020-05-28T16:39:43.126556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CPT1B: Rating: RED; Mode of pathogenicity: None; Publications: 18023382; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CPT1B",
"entity_type": "gene"
},
{
"created": "2020-05-28T15:28:13.571431+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL4A1 was added\ngene: COL4A1 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A1 were set to 31540749\nPhenotypes for gene: COL4A1 were set to Recurrent rhabdomyolysis; infections; hypertrophic cardiomyopathy.\nReview for gene: COL4A1 was set to RED\nAdded comment: Single case reported with rhabdomyolysis \nSources: Expert list",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-05-28T14:51:50.015987+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CHKB as ready",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-05-28T14:51:50.007204+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chkb has been classified as Red List (Low Evidence).",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-05-28T14:51:32.311248+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHKB was added\ngene: CHKB was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHKB were set to 26782016\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type\tMIM#602541\nReview for gene: CHKB was set to RED\nAdded comment: Single family reported with rhbdomyolysis \nSources: Expert list",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-05-28T14:19:11.117817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32112655; Phenotypes: Gnathodiaphyseal dysplasia MIM#166260, Miyoshi muscular dystrophy 3 MIM#613319, Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:51:48.224596+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC63: Changed rating: RED",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:51:04.115631+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKCSH as Amber List (moderate evidence)",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:51:04.106764+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkcsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:50:25.952992+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKCSH: Changed rating: AMBER",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:49:52.244847+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG9 as ready",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:49:52.235690+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:49:48.498037+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG9 as Amber List (moderate evidence)",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:49:48.484281+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:49:02.419672+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG9 was added\ngene: ALG9 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: ALG9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALG9 were set to 31395617\nPhenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#\t608776; Gillessen-Kaesbach-Nishimura syndrome, MIM#263210; Polycystic kidney disease\nReview for gene: ALG9 was set to AMBER\nAdded comment: Two individuals with mono-allelic variants reported with polycystic kidney disease, and ALG9 LOF variants over-represented in a population-based cohort. However, penetrance and expressivity seem variable, and also it is unclear whether parents of children affected by the AR CDG have renal cysts. Bi-allelic variants cause CDG: kidney cysts reported as part of phenotype but note this is generally a severe multi-system disorder. \nSources: Literature",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:32:58.747101+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease relationship, >50 reported families.; to: Well established gene-disease relationship, >50 reported families. Liver cystic disease predominates the clinical presentation, generally a small number of kidney cysts.",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:32:21.409893+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCSH were changed from Polycystic liver disease 1, MIM# 174050, with or without kidney cysts to Polycystic liver disease 1, MIM# 174050, with or without kidney cysts",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:32:16.935845+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCSH as ready",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:32:16.924660+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkcsh has been classified as Green List (High Evidence).",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:31:59.968941+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1, MIM# 174050, with or without kidney cysts",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:31:35.121466+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCSH were set to ",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:30:09.978544+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:28:50.079516+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577059; Phenotypes: Polycystic liver disease 1, MIM# 174050, with or without kidney cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:15:33.856977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJB11 as ready",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:15:33.848052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb11 has been classified as Green List (High Evidence).",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:15:02.873702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAJB11 were changed from to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:14:40.768687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJB11 were set to ",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:14:19.445208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJB11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-05-28T07:13:55.602293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351, 29777155; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:51:51.542311+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP1 as ready",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:51:51.530526+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:50:13.805281+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:49:34.081012+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP1 were set to ",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:49:10.279427+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:48:30.503352+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB18 as ready",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:48:30.492022+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab18 has been classified as Green List (High Evidence).",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:48:27.888519+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:47:53.645745+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB18 were set to ",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:47:28.495040+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:46:44.589629+10:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:46:44.578163+10:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:46:41.841712+10:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:46:14.184460+10:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:45:45.390865+10:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:44:59.050236+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANO5 as ready",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:44:59.040644+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.28",
"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": "2020-05-27T18:44:55.171914+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANO5 were set to ",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:44:30.879882+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ANO5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:44:07.192573+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:43:46.295306+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:43:24.940147+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:43:01.699681+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:41:46.902127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR143 as ready",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:41:46.888304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr143 has been classified as Green List (High Evidence).",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:41:35.248000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR143 were changed from to congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:41:13.222452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPR143 were set to ",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:40:52.645942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:06:54.574767+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELP1 as ready",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:06:54.565163+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Green List (High Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:06:23.858319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELP1 as ready",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:06:23.848803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Green List (High Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:06:16.001826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELP1 were changed from to Dysautonomia, familial MIM#223900; paediatric medulloblastoma",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:05:51.989666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELP1 were set to ",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T18:05:32.246376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T16:54:48.361073+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.73",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-05-27T16:50:59.157263+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.73",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520; Phenotypes: Warburg micro syndrome 1 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T16:45:25.046038+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.73",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21473985, 23420520; Phenotypes: Warburg micro syndrome 3 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-05-27T16:31:01.613892+10:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.7",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32162846; Phenotypes: Cowden syndrome 1 158350, Lhermitte-Duclos syndrome 158350, Macrocephaly/autism syndrome 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-05-27T16:30:18.237499+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ANO5: Rating: GREEN; 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: 28176803, 32112655; Phenotypes: Gnathodiaphyseal dysplasia MIM#166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANO5",
"entity_type": "gene"
}
]
}