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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2075",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2073",
"results": [
{
"created": "2019-12-04T20:30:06.971312+11:00",
"panel_name": "Callosome_VCGS",
"panel_id": 205,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Red List (Low Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:29:38.867701+11:00",
"panel_name": "Callosome_VCGS",
"panel_id": 205,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:28:42.578571+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCSH as ready",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:28:42.571345+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Red List (Low Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:28:40.211431+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy, MIM#605899",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:28:36.862134+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:28:23.183759+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GCSH were set to ",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:28:12.203102+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCSH as Red List (low evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:28:12.194702+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Red List (Low Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:27:57.144076+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: None",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:22:03.301110+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCK as ready",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:22:03.291547+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gck has been classified as Amber List (Moderate Evidence).",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:21:56.748853+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCK were changed from to Diabetes mellitus, permanent neonatal\t606176",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:21:44.669222+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:21:33.747545+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCK as Amber List (moderate evidence)",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:21:33.739055+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gck has been classified as Amber List (Moderate Evidence).",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:21:20.664110+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 606176; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:14:56.981637+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBE1 as ready",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:14:56.974209+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Red List (Low Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:14:50.157013+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM#232500",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:14:31.552937+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:14:24.755575+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GBE1 as Red List (low evidence)",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:14:24.748438+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbe1 has been classified as Red List (Low Evidence).",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:14:09.773274+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:11:45.284269+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA2 as ready",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:11:45.276838+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba2 has been classified as Red List (Low Evidence).",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:11:39.531562+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM#614409",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:11:25.428779+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:11:18.328812+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GBA2 as Red List (low evidence)",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:11:18.321659+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba2 has been classified as Red List (Low Evidence).",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:11:05.721579+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:07:57.215510+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA6 as ready",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:07:57.207948+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Green List (High Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:07:11.595582+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from to Pancreatic agenesis and congenital heart defects, MIM#600001",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:07:05.131068+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA6 were set to ",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:06:50.758382+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-12-04T20:05:11.435981+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22158542; Phenotypes: Pancreatic agenesis and congenital heart defects, MIM#600001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:08:31.049802+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:08:31.042062+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Red List (Low Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:08:25.302244+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:08:18.894940+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA1 as Red List (low evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:08:18.887654+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Red List (Low Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:08:04.475557+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM#314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:00:36.782206+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:00:36.774490+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:00:25.733799+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALT were changed from to Galactosemia, MIM#230400",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-04T17:00:11.694488+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-04T16:59:58.114059+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:56:31.850689+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAD1 as ready",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:56:31.843338+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:56:21.161984+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:55:43.145125+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAD1 were set to ",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:55:25.323994+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:54:54.563408+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAD1 as Red List (low evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:54:54.555214+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:43:03.295089+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAD1 as ready",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:43:03.287629+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:42:57.719991+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:42:36.505372+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAD1 were set to ",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:42:15.472341+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:41:29.000318+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAD1 as Red List (low evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:41:28.987029+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:40:59.293060+11:00",
"panel_name": "Cerebral Palsy_VCGS",
"panel_id": 73,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:47.973409+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAD1 as ready",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:47.966083+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:45.582478+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:34.751208+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAD1 were set to ",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:23.344719+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:14.498483+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAD1 as Red List (low evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:14.490646+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T11:07:01.119115+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2019-12-04T10:19:35.068344+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRG1 as ready",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2019-12-04T10:19:35.061066+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg1 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2019-12-04T10:19:27.798711+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRG1 as Red List (low evidence)",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2019-12-04T10:19:27.786535+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg1 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2019-12-04T10:19:14.955631+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GABRG1",
"entity_type": "gene"
},
{
"created": "2019-12-03T21:04:23.388554+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUT8 as ready",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2019-12-03T21:04:23.381356+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut8 has been classified as Green List (High Evidence).",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2019-12-03T21:04:16.711564+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUT8 as Green List (high evidence)",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2019-12-03T21:04:16.704633+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut8 has been classified as Green List (High Evidence).",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2019-12-03T21:04:01.578273+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FUT8 was added\ngene: FUT8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FUT8 were set to 29304374\nPhenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005\nReview for gene: FUT8 was set to GREEN\nAdded comment: Three unrelated individuals reported with bi-allelic variants in this gene. \nSources: Expert list",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:55:23.120672+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTL as ready",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:55:23.113316+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Red List (Low Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:55:17.355790+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM#606159; Hyperferritinemia-cataract syndrome, MIM#600886; L-ferritin deficiency, dominant and recessive, MIM#615604",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:55:01.167018+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:54:55.198736+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTL as Red List (low evidence)",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:54:55.191291+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Red List (Low Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:54:42.750475+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM#606159, Hyperferritinemia-cataract syndrome, MIM#600886, L-ferritin deficiency, dominant and recessive, MIM#615604; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:47:45.408146+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMPD4 as ready",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:47:45.400530+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmpd4 has been classified as Green List (High Evidence).",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:47:36.541135+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMPD4 as Green List (high evidence)",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:47:36.533905+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmpd4 has been classified as Green List (High Evidence).",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:47:15.180282+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMPD4 was added\ngene: FRMPD4 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FRMPD4 were set to 25644381; 29267967\nPhenotypes for gene: FRMPD4 were set to Mental retardation, X-linked 104, MIM#300983\nReview for gene: FRMPD4 was set to GREEN\nAdded comment: Multiple affected individuals from unrelated families reported. \nSources: Expert list",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:41:23.949994+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMPD4 as ready",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:41:23.942360+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmpd4 has been classified as Green List (High Evidence).",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:41:17.132757+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRMPD4 were changed from to Mental retardation, X-linked 104, MIM#300983",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:41:04.826994+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRMPD4 were set to ",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:40:50.644577+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FRMPD4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T20:40:35.235628+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 29267967; Phenotypes: Mental retardation, X-linked 104, MIM#300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2019-12-03T19:22:23.889599+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ",
"panel_id": 250,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRAS1 as ready",
"entity_name": "FRAS1",
"entity_type": "gene"
}
]
}