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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1945",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1943",
"results": [
{
"created": "2020-02-03T15:52:59.488284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTO were changed from to Growth retardation, developmental delay, facial dysmorphism, MIM# 612938",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:52:26.137496+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTO were set to ",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:51:44.372930+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTO as Amber List (moderate evidence)",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:51:44.362700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fto has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:51:02.202054+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTO: Rating: ; Mode of pathogenicity: None; Publications: 19559399, 26378117; Phenotypes: Growth retardation, developmental delay, facial dysmorphism, MIM# 612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:19:19.801436+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRRS1L as ready",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:19:19.790784+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frrs1l has been classified as Green List (High Evidence).",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:19:04.813104+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRRS1L as Green List (high evidence)",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:19:04.802628+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frrs1l has been classified as Green List (High Evidence).",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2020-02-03T15:18:19.942277+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRRS1L was added\ngene: FRRS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRRS1L were set to 27236917; 27239025\nPhenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, MIM#616981\nReview for gene: FRRS1L was set to GREEN\nAdded comment: Five unrelated individuals reported. \nSources: Expert list",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:48:14.214630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIBP as ready",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:48:14.203599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:48:04.663575+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to ",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:47:45.720101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:46:40.744741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:46:25.241558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Amber List (moderate evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:46:25.230438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:39:24.023791+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIBP as ready",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:39:24.010620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:39:20.279293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:36:31.257768+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIBP as ready",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:36:31.247088+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:36:24.346946+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:35:47.786870+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to ",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:35:17.020419+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:34:44.618659+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Amber List (moderate evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:34:44.608651+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:34:07.926538+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:32:49.592096+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIBP as ready",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:32:49.581882+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:32:44.397896+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:32:12.302429+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to ",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:31:38.053056+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:31:06.538524+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Amber List (moderate evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:31:06.527783+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:30:46.435055+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIBP were changed from Thauvin-Robinet-Faivre syndrome, MIM#617107 to Thauvin-Robinet-Faivre syndrome, MIM#617107",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:30:27.220782+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:30:16.484932+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIBP were changed from to Thauvin-Robinet-Faivre syndrome, MIM#617107",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:29:47.669850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to 26660953; 27183861",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:29:19.082774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIBP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:28:51.382011+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to ",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:28:21.273542+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:27:52.331771+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Amber List (moderate evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:27:52.320406+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:27:00.971291+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26660953, 27183861; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:20:33.837616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:20:33.827034+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:20:21.409917+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from to Hartsfield syndrome, MIM# 615465",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:19:39.447617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGFR1 were set to ",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:18:59.738293+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:18:03.689139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGFR3 as ready",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:18:03.678581+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgfr3 has been classified as Green List (High Evidence).",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:17:48.948108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from to CATSHL syndrome 610474; Hypochondroplasia 146000; SADDAN 616482; Muenke syndrome 602849; Thanatophoric dysplasia, type I 187600",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:17:14.158940+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:16:31.966979+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CATSHL syndrome 610474, Hypochondroplasia 146000, SADDAN 616482, Muenke syndrome 602849, Thanatophoric dysplasia, type I 187600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-02-03T13:11:43.500434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812909; Phenotypes: Hartsfield syndrome, MIM# 615465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:40:07.138046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST8 as ready",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:40:07.127043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst8 has been classified as Red List (Low Evidence).",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:39:45.497852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST8 were changed from to Peeling skin syndrome",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:39:12.719432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST8 were set to ",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:38:51.902496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHST8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:38:28.467717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST8 as Red List (low evidence)",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:38:28.457174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst8 has been classified as Red List (Low Evidence).",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:37:58.819818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHST8: Rating: RED; Mode of pathogenicity: None; Publications: 22289416, 28204496; Phenotypes: Peeling skin syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:33:06.819464+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST8 as ready",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:33:06.808832+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst8 has been classified as Red List (Low Evidence).",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:32:54.101505+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST8 were changed from to Peeling Skin Syndrome",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:32:22.768060+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST8 were set to ",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:31:45.374256+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHST8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:31:08.537783+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST8 as Red List (low evidence)",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:31:08.527082+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst8 has been classified as Red List (Low Evidence).",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T12:01:59.609721+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.29",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CHST8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22289416, 28204496; Phenotypes: Peeling Skin Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST8",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:39:58.605008+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1177",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: RASA2 as ready",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:39:58.595034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1177",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:39:33.124332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1177",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: RASA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:39:01.420801+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.14",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: RASA2 as ready",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:39:01.402657+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.14",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Red List (Low Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:38:53.723393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1176",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: RASA2 as Amber List (moderate evidence)",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:38:53.712164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1176",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:38:39.023089+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.14",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Publications for gene: RASA2 were set to ",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:38:24.391731+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.11",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Publications for gene: RASA2 were set to 25049390; 25049390",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:38:18.596985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1175",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25049390, 30311384; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:37:21.647982+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.13",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: RASA2 as Red List (low evidence)",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:37:21.637304+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.13",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Red List (Low Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:36:25.958803+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.12",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: RASA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:35:21.182731+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.10",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: RASA2 as ready",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:35:21.172310+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.10",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:34:55.709432+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.10",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Publications for gene: RASA2 were set to ",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:34:27.303746+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.9",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: RASA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:33:56.610165+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.8",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Classified gene: RASA2 as Amber List (moderate evidence)",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:33:56.599156+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.8",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T10:33:05.184240+11:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.7",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25049390, 25049390; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2020-02-03T09:32:04.369029+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Both mono allelic and biallelic variants cause disease, no evidence for imprinting.; to: Both mono allelic and biallelic variants cause disease; excess of maternally inherited variants observed in LongQT syndrome likely linked to imprinting at this locus.",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:14:23.930208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TKFC as ready",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:14:23.920274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:14:09.953620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TKFC as Amber List (moderate evidence)",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:14:09.943443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:13:48.281512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TKFC was added\ngene: TKFC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKFC were set to 32004446\nPhenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction\nReview for gene: TKFC was set to AMBER\nAdded comment: Two unrelated individuals reported. \nSources: Literature",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:13:43.796225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TKFC as ready",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2020-02-02T22:13:43.784416+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tkfc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TKFC",
"entity_type": "gene"
}
]
}