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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1497",
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"results": [
{
"created": "2020-11-25T18:07:44.758590+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066342; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:01:36.879708+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG3 as ready",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:01:36.862541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg3 has been classified as Green List (High Evidence).",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:01:32.750577+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:00:59.769611+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG3 were set to ",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T18:00:27.675327+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:59:50.733818+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:59:14.735188+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG3 as ready",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:59:14.724430+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg3 has been classified as Green List (High Evidence).",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:59:11.064773+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:58:41.123602+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG3 were set to ",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:58:11.474601+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:57:40.761138+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:56:51.287016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG3 as ready",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:56:51.276705+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg3 has been classified as Green List (High Evidence).",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:56:34.829287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:56:04.092579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG3 were set to ",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:55:45.393314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:55:24.942539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:54:18.010391+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG3 as ready",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:54:17.997865+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg3 has been classified as Green List (High Evidence).",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:54:14.131048+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG3 were changed from to Congenital disorder of glycosylation, type Id, MIM# 601110",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:53:25.562115+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG3 were set to ",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:52:54.708000+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T17:52:23.904704+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009; Phenotypes: Congenital disorder of glycosylation, type Id, MIM# 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-11-25T15:42:48.989846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC3A2 were changed from to Autism",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T15:42:30.722575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC3A2 were set to ",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T15:42:10.211829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC3A2: Rating: RED; Mode of pathogenicity: None; Publications: 31701662; Phenotypes: Autism; Mode of inheritance: None",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T15:17:25.918433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5441",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "changed review comment from: No evidence of mendelian gene-disease association reported in the literature.; to: Weak evidence of mendelian gene-disease association reported in the literature.\r\n\r\nThree monoallelic missense variants reported in patients with Autism spectrum disorder (ASD) from one publication (PMID: 31701662).",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:47:35.284269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC3A2 as ready",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:47:35.275985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc3a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:47:24.516119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC3A2 as Red List (low evidence)",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:47:24.500847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc3a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:46:49.699880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA4 as ready",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:46:49.686009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa4 has been classified as Red List (Low Evidence).",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:46:42.477871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA4 were set to 33193662",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:46:29.508022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA4 were changed from to Microtia-Atresia; CAKUT",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:46:13.982237+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA4 were set to ",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:45:50.891194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:45:33.905919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA4 as Red List (low evidence)",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:45:33.895800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa4 has been classified as Red List (Low Evidence).",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:44:07.478447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASTE1 as ready",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:44:07.439657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aste1 has been classified as Red List (Low Evidence).",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:43:59.584845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASTE1 were changed from to palmar and plantar fibromatosis",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:43:29.160807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASTE1 were set to ",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:43:02.329566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASTE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:42:44.351797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASTE1 as Red List (low evidence)",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T14:42:44.340715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aste1 has been classified as Red List (Low Evidence).",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T13:53:24.524722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5431",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: SLC3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC3A2",
"entity_type": "gene"
},
{
"created": "2020-11-25T13:36:47.881812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5431",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: HOXA4: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33193662; Phenotypes: Microtia-Atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:40:01.209107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5431",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: ASTE1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29104234; Phenotypes: palmar and plantar fibromatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASTE1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:22:22.269998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA1 as ready",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:22:22.258076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca1 has been classified as Red List (Low Evidence).",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:22:15.381164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA1 were changed from to Intellectual disability",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:21:51.614646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA1 were set to ",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:21:33.389826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:21:14.772376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA1 as Red List (low evidence)",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:21:14.761618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca1 has been classified as Red List (Low Evidence).",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:59.663128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKAL1 as ready",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:59.652373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkal1 has been classified as Red List (Low Evidence).",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:50.792954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKAL1 as Red List (low evidence)",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:50.782019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkal1 has been classified as Red List (Low Evidence).",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:03.338275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCHH as ready",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:18:03.330250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tchh has been classified as Red List (Low Evidence).",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:56.445083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCHH were changed from to Uncombable hair syndrome 3 MIM#617252",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:37.125080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCHH were set to ",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:19.026127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:02.369945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCHH as Red List (low evidence)",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:17:02.358913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tchh has been classified as Red List (Low Evidence).",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:14:43.934313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCHH",
"entity_type": "gene"
},
{
"created": "2020-11-25T12:02:30.966512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: CDKAL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CDKAL1",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:49.205554+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:49.194119+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:42.704958+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:57:11.825819+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRTAP were set to ",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T11:42:44.306319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: SMARCA1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26740508, 26539891, 29249292.; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SMARCA1",
"entity_type": "gene"
},
{
"created": "2020-11-25T10:00:13.491220+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:59:43.772555+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:41.627281+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:41.619181+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:39.174926+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:58:09.443595+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRTAP were set to ",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:57:38.542734+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:48.752960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:48.742474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:42.226009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:56:20.739826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRTAP were set to ",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:55:57.940908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:46:15.413028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:46:15.401844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:46:00.862078+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:45:27.699428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP9X were set to ",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:44:22.405663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9X was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:43:13.386057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:43:13.377964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:43:04.328397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:42:44.697909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP9X were set to ",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:42:31.686305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP9X was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:40:42.847896+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-11-25T09:40:42.836524+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Red List (Low Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
}
]
}