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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2082",
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"results": [
{
"created": "2019-11-29T13:38:23.158402+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX14 were set to ",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:38:09.158809+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:38:01.028560+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX14 as Amber List (moderate evidence)",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:38:01.018703+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:29:27.923946+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX14 as ready",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:29:27.916833+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:29:23.597259+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:28:46.238925+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:28:13.597373+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX14 were set to ",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:27:46.972157+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX14 as Amber List (moderate evidence)",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:27:46.964744+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:27:19.789328+11:00",
"panel_name": "Regression_VCGS",
"panel_id": 206,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:22:31.670520+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX14 as ready",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:22:31.662363+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:19:15.796361+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:18:56.121403+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX14 were set to ",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:18:31.640974+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:18:04.918332+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX14 as Amber List (moderate evidence)",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:18:04.903256+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:17:38.104549+11:00",
"panel_name": "Mitochondrial_AustralianGenomics_VCGS",
"panel_id": 203,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:15:56.590682+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX14 as ready",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:15:56.582350+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:15:52.335364+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:15:37.061307+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX14 were set to ",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:15:22.273100+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:15:10.782153+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX14 as Amber List (moderate evidence)",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:15:10.773763+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T13:14:58.165135+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX14",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:41:35.111878+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CORO1A as ready",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:41:35.104335+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coro1a has been classified as Red List (Low Evidence).",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:41:31.027998+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM#615401",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:41:12.680896+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:40:59.803211+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CORO1A as Red List (low evidence)",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:40:59.795234+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coro1a has been classified as Red List (Low Evidence).",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:40:16.159975+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CORO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 8, MIM#615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CORO1A",
"entity_type": "gene"
},
{
"created": "2019-11-29T10:25:07.380010+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2019-11-29T08:50:51.644089+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7A as ready",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2019-11-29T08:50:51.636918+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2019-11-29T08:50:41.437199+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP7A as Green List (high evidence)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2019-11-29T08:50:41.425451+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2019-11-29T08:50:13.399437+11:00",
"panel_name": "Aortopathy, Connective tissue disorder_VCGS",
"panel_id": 44,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert list\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400\nReview for gene: ATP7A was set to GREEN\nAdded comment: Connective tissue laxity is a prominent part of the phenotype. \nSources: Expert list",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:37:06.117516+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ2 as ready",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:37:06.109972+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:37:01.429434+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM#607426",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:36:43.260005+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:36:25.870447+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM#607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:27:43.273385+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL18A1 as ready",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:27:43.264590+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:27:38.546013+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM#267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:27:21.422164+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:27:12.791315+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL18A1 as Red List (low evidence)",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:27:12.783310+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-29T07:26:58.230440+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, MIM#267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:33:28.518909+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iil, MIM#614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:31:52.330154+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP5 as ready",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:31:52.322727+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap5 has been classified as Red List (Low Evidence).",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:31:47.459255+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP5 were changed from to Autism",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:31:31.576984+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP5 were set to ",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:31:14.953625+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:30:48.127546+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTNAP5 as Red List (low evidence)",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:30:48.119502+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap5 has been classified as Red List (Low Evidence).",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-29T06:30:14.635695+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTNAP5: Rating: RED; Mode of pathogenicity: None; Publications: 20346443; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNTNAP5",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:42:52.803484+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP1 as ready",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:42:52.795582+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap1 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:42:44.285399+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:41:58.987231+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP1 were set to ",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:41:27.912874+11:00",
"panel_name": "Arthrogryposis_VCGS",
"panel_id": 47,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:35:43.576459+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP1 as ready",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:35:43.564838+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap1 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:27:54.612663+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:27:37.707046+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNTNAP1 were set to ",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:27:25.462238+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T18:27:10.149590+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:16:47.903248+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:16:47.895994+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:16:43.024821+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZIC3 as Green List (high evidence)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:16:43.016761+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:16:15.531752+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM#314390\nReview for gene: ZIC3 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:10:45.467433+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT5A as ready",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:10:45.460059+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt5a has been classified as Green List (High Evidence).",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:10:39.686782+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT5A as Green List (high evidence)",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:10:39.679436+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt5a has been classified as Green List (High Evidence).",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:10:11.378748+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT5A was added\ngene: WNT5A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list\nMode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700\nReview for gene: WNT5A was set to GREEN\nAdded comment: Renal anomalies in about a quarter. \nSources: Expert list",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:04:30.230862+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STRA6 as ready",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:04:30.222238+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Green List (High Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:04:25.625826+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STRA6 as Green List (high evidence)",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:04:25.614645+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Green List (High Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2019-11-28T17:03:57.214001+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRA6 was added\ngene: STRA6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, MIM#601186\nReview for gene: STRA6 was set to GREEN\nAdded comment: CAKUT is part of the phenotype \nSources: Expert list",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:56:07.184882+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KYNU as ready",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:56:07.177316+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:56:02.187557+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KYNU as Green List (high evidence)",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:56:02.178918+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:55:36.335418+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KYNU was added\ngene: KYNU was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list\nMode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KYNU were set to 28792876\nPhenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661\nReview for gene: KYNU was set to GREEN\nAdded comment: Two unrelated individuals plus functional data. \nSources: Expert list",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:51:09.976543+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:51:09.969312+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:51:01.805518+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAAO as Green List (high evidence)",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:51:01.797625+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:50:24.820774+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAAO was added\ngene: HAAO was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list\nMode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAAO were set to 28792876\nPhenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660\nReview for gene: HAAO was set to GREEN\nAdded comment: Two unrelated individuals, functional data. \nSources: Expert list",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:46:20.419160+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2019-11-28T16:46:20.411591+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
}
]
}