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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1689",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1687",
"results": [
{
"created": "2020-08-04T10:51:04.179953+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.16",
"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": "2020-08-04T10:51:00.331488+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKCSH as Green List (high evidence)",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:51:00.321624+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.16",
"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": "2020-08-04T10:50:51.428126+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKCSH was added\ngene: PRKCSH was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059\nPhenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)\nReview for gene: PRKCSH was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:50:06.370024+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKHD1 as ready",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:50:06.356184+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:50:02.614091+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKHD1 as Green List (high evidence)",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:50:02.605236+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:49:54.664909+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358\nPhenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)\nReview for gene: PKHD1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:48:45.706721+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD2 as ready",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:48:45.698366+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd2 has been classified as Green List (High Evidence).",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:48:42.120187+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKD2 as Green List (high evidence)",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:48:42.110302+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd2 has been classified as Green List (High Evidence).",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:48:34.104011+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD2 was added\ngene: PKD2 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PKD2 were set to 29321346\nPhenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)\nReview for gene: PKD2 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:47:45.243987+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1 as ready",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:47:45.236104+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:47:41.425842+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKD1 as Green List (high evidence)",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:47:41.416039+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:47:33.383199+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD1 was added\ngene: PKD1 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PKD1 were set to 8554072; 3178424; 9211343\nPhenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)\nReview for gene: PKD1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:46:16.814548+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP5 as ready",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:46:16.804597+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Green List (High Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:46:11.729510+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRP5 as Green List (high evidence)",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:46:11.720042+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp5 has been classified as Green List (High Evidence).",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:46:03.286948+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRP5 were set to 25920554\nPhenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)\nReview for gene: LRP5 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:45:02.389536+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GANAB as ready",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:45:02.380615+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ganab has been classified as Green List (High Evidence).",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:44:57.368675+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GANAB as Green List (high evidence)",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:44:57.359781+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ganab has been classified as Green List (High Evidence).",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:44:48.673133+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GANAB was added\ngene: GANAB was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GANAB were set to 29243290; 27259053; 28862642\nPhenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)\nReview for gene: GANAB was set to GREEN\nAdded comment: Multiple liver cysts are a feature of this condition. \nSources: Expert list",
"entity_name": "GANAB",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:43:54.850031+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJB11 as ready",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:43:54.842198+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.4",
"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": "2020-08-04T10:43:51.405732+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJB11 as Green List (high evidence)",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:43:51.376457+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.4",
"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": "2020-08-04T10:43:42.341700+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJB11 was added\ngene: DNAJB11 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNAJB11 were set to 29706351\nPhenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)\nReview for gene: DNAJB11 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:42:54.543086+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:42:54.532659+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:42:51.679255+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG8 as Green List (high evidence)",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:42:51.670950+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:42:41.384921+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to Polycystic liver disease. Sources: Expert list\nMode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALG8 were set to 28375157; 15235028\nPhenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM#\t617874\nReview for gene: ALG8 was set to GREEN\ngene: ALG8 was marked as current diagnostic\nAdded comment: Sources: Expert list",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-08-04T10:41:29.529815+10:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added Panel Polycystic liver disease\nSet panel types to: Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-04T09:37:05.119736+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:36:55.100738+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPG7: Added comment: Please note some of the dominant variants initially reported now have high population frequency in gnomad.; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:32:47.632595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHI3L1 as ready",
"entity_name": "CHI3L1",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:32:47.622907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chi3l1 has been classified as Red List (Low Evidence).",
"entity_name": "CHI3L1",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:32:40.794728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHI3L1 were changed from to {Asthma-related traits, susceptibility to, 7} 611960; {Schizophrenia, susceptibility to} 181500",
"entity_name": "CHI3L1",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:32:23.932093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHI3L1 as Red List (low evidence)",
"entity_name": "CHI3L1",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:32:23.921778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chi3l1 has been classified as Red List (Low Evidence).",
"entity_name": "CHI3L1",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:32:08.465925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma-related traits, susceptibility to, 7} 611960, {Schizophrenia, susceptibility to} 181500; Mode of inheritance: None",
"entity_name": "CHI3L1",
"entity_type": "gene"
},
{
"created": "2020-08-04T09:31:24.636853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3670",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CHI3L1",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:58:19.536418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C3orf52 as ready",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:58:19.526977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3orf52 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:58:02.101153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C3orf52 as Amber List (moderate evidence)",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:58:02.092453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3orf52 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:57:47.081294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C3orf52 was added\ngene: C3orf52 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C3orf52 were set to 32336749\nPhenotypes for gene: C3orf52 were set to Localized hypotrichosis\nReview for gene: C3orf52 was set to AMBER\nAdded comment: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6) \nSources: Literature",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:56:12.107479+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C3orf52 as ready",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:56:12.099318+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c3orf52 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:53:56.792593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA8 as ready",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:53:56.779059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:53:48.334830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA8 was added\ngene: NDUFA8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA8 were set to 32385911\nPhenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures\nReview for gene: NDUFA8 was set to RED\nAdded comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I. \nSources: Literature",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:52:19.946075+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA8 as ready",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:52:19.938176+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:52:12.872379+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA8 was added\ngene: NDUFA8 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA8 were set to 32385911\nPhenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures\nReview for gene: NDUFA8 was set to RED\nAdded comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I. \nSources: Literature",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:36:54.517581+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.770",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: PIGQ: Rating: ; Mode of pathogenicity: None; Publications: 32588908, 24463883, 25558065, 31148362; Phenotypes: Epileptic encephalopathy, early infantile, 77 (MIM #618548); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:36:46.996575+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2813",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: PIGQ was added\ngene: PIGQ was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGQ were set to 32588908; 24463883; 25558065; 31148362\nPhenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77 (MIM #618548)\nPenetrance for gene: PIGQ were set to Complete\nReview for gene: PIGQ was set to GREEN\nAdded comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).\r\n\r\nJohnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362). \r\n\r\nAffected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.\r\n\r\nPIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis. \r\n\r\nMore than 10 variants have been reported to date (missense / pLoF). \r\n\r\nOverall PIGQ can be considered for green rating in both ID and epilepsy gene panels. \nSources: Literature",
"entity_name": "PIGQ",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:18:34.020382+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. \nSources: Literature; to: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)\r\nSources: Literature",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:17:33.708569+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: C3orf52 as Amber List (moderate evidence)",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:17:33.698074+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: c3orf52 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-04T08:17:25.530897+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: C3orf52 was added\ngene: C3orf52 was added to Hair disorders. Sources: Literature\nMode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C3orf52 were set to PMID: 32336749\nPhenotypes for gene: C3orf52 were set to Localized hypotrichosis\nReview for gene: C3orf52 was set to AMBER\ngene: C3orf52 was marked as current diagnostic\nAdded comment: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. \nSources: Literature",
"entity_name": "C3orf52",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:54.918057+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG5 as ready",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:54.908733+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:48.315069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG5 as ready",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:48.305210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:41.264523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLG5 as Green List (high evidence)",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:41.256773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:25.749222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG5 was added\ngene: DLG5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLG5 were set to 32631816\nPhenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations\nReview for gene: DLG5 was set to GREEN\nAdded comment: Four unrelated families reported, supportive Xenopus animal model data. \nSources: Literature",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:10.740589+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLG5 as Green List (high evidence)",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:40:10.730986+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:39:12.296922+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG5 was added\ngene: DLG5 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLG5 were set to 32631816\nPhenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations\nReview for gene: DLG5 was set to GREEN\nAdded comment: Four unrelated families reported, supportive Xenopus animal model data. \nSources: Literature",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:23:13.753746+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM8 as ready",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:23:13.744320+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm8 has been classified as Green List (High Evidence).",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:23:11.164561+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM8 were set to ",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2020-08-03T18:22:49.830864+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM#\t612885",
"entity_name": "MCM8",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:50:10.423160+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAF4 as ready",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:50:10.412508+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:50:06.658960+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAF4 as Green List (high evidence)",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:50:06.650897+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaf4 has been classified as Green List (High Evidence).",
"entity_name": "SCAF4",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:48:47.959378+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCKAP1L as ready",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:48:47.948594+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nckap1l has been classified as Green List (High Evidence).",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:48:43.890706+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCKAP1L as Green List (high evidence)",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:48:43.880480+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nckap1l has been classified as Green List (High Evidence).",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:48:16.967920+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCKAP1L was added\ngene: NCKAP1L was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NCKAP1L were set to 32647003\nPhenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation\nReview for gene: NCKAP1L was set to GREEN\nAdded comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed. \nSources: Literature",
"entity_name": "NCKAP1L",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:43:39.572786+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL7 as ready",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:43:39.558487+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl7 has been classified as Red List (Low Evidence).",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:43:33.443923+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXL7 was added\ngene: FBXL7 was added to Lymphoedema_syndromic. Sources: Literature\nMode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXL7 were set to 31633297\nPhenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphedema\nReview for gene: FBXL7 was set to RED\nAdded comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. \r\nPatient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. \nSources: Literature",
"entity_name": "FBXL7",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:40:29.863891+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:40:29.855143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:40:26.154103+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:39:52.581229+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:39:52.573112+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2020-08-03T17:39:22.356165+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPDL as ready",
"entity_name": "HPDL",
"entity_type": "gene"
}
]
}