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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1918",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1916",
"results": [
{
"created": "2020-02-29T17:12:37.574832+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:12:14.915252+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUFU as Amber List (moderate evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:12:14.906603+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:11:47.747196+11:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 28965847; Phenotypes: Joubert syndrome 32, MIM#617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:10:09.022528+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUFU as ready",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:10:09.013010+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:10:02.702830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUFU as Amber List (moderate evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:10:02.692191+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:09:30.981134+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUFU were set to 28965847\nPhenotypes for gene: SUFU were set to Joubert syndrome 32, MIM#617757\nReview for gene: SUFU was set to AMBER\nAdded comment: Two unrelated families described with what are postulated to be hypomorphic bi-allelic variants in this gene and Joubert syndrome. Note gene also causes dominant Basal Cell Nevus Syndrome. \nSources: Expert list",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:01:44.381574+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX11 as ready",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:01:44.372225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx11 has been classified as Red List (Low Evidence).",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:01:38.915649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX11 were changed from to Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:01:11.805738+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:00:11.348143+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STX11 as Red List (low evidence)",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-02-29T17:00:11.335034+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx11 has been classified as Red List (Low Evidence).",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-02-29T16:59:40.258538+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STX11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2020-02-29T13:51:39.114065+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STT3A: Changed rating: GREEN; Changed publications: 23842455, 30701557, 28424003; Changed phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2020-02-29T13:43:17.519447+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STRADA as ready",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2020-02-29T13:43:17.509963+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: strada has been classified as Green List (High Evidence).",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2020-02-29T13:43:10.102383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STRADA as Green List (high evidence)",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2020-02-29T13:43:10.088410+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: strada has been classified as Green List (High Evidence).",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2020-02-29T13:41:44.397387+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRADA was added\ngene: STRADA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STRADA were set to 17522105; 27170158; 28688840\nPhenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM#\t611087\nReview for gene: STRADA was set to GREEN\nAdded comment: Seven distantly related Menonite children plus four other unrelated families reported. \nSources: Expert list",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:32:17.368111+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRPX2 as ready",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:32:17.358735+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpx2 has been classified as Red List (Low Evidence).",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:32:11.395165+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:31:44.419227+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRPX2 were set to ",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:31:20.355186+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:30:52.924957+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRPX2 as Red List (low evidence)",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:30:52.915798+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpx2 has been classified as Red List (Low Evidence).",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:30:23.251101+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:29:34.428163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRPX2 as ready",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:29:34.415142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpx2 has been classified as Red List (Low Evidence).",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:29:19.178559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:29:03.341394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRPX2 were set to ",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:28:40.770413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:28:22.814103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRPX2 as Red List (low evidence)",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:28:22.800558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpx2 has been classified as Red List (Low Evidence).",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:28:03.382648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:27:58.480765+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRPX2 as ready",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:27:58.471913+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpx2 has been classified as Red List (Low Evidence).",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:26:30.270495+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:26:02.499200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRPX2 were set to ",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:25:34.457103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:24:12.698973+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRPX2 as Red List (low evidence)",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:24:12.689974+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srpx2 has been classified as Red List (Low Evidence).",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:23:01.519340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SRPX2",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:18:36.091286+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRP54 as ready",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:18:36.082064+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Green List (High Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:18:27.380850+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRP54 were changed from to Syndromic neutropenia with Shwachman-Diamond-like features",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:18:05.591283+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRP54 were set to ",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:17:40.893608+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:17:11.941123+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 28972538; Phenotypes: Syndromic neutropenia with Shwachman-Diamond-like features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:08:40.927664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRTN as ready",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:08:40.918974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Green List (High Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:08:26.275061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:08:09.378581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPRTN were set to ",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:07:52.242279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:07:31.432755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:06:04.001691+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRTN as ready",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:06:03.993388+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Red List (Low Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:05:54.422365+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:05:25.374466+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPRTN were set to ",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:04:57.486665+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:04:31.576263+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPRTN as Red List (low evidence)",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:04:31.563154+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sprtn has been classified as Red List (Low Evidence).",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-29T11:03:56.909527+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRTN",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:17:27.958470+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:17:27.949399+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:17:14.497200+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN5A were changed from to Long QT syndrome 3 (MIM#603830)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:16:55.198756+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to 29798782",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:16:35.681813+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN5A were set to ",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:16:16.511361+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:15:13.205915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MC4R as ready",
"entity_name": "MC4R",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:15:13.192658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc4r has been classified as Green List (High Evidence).",
"entity_name": "MC4R",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:15:01.150789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MC4R were changed from to {Obesity, resistence to (BMIQ20)} 618306; Obesity (BMIQ20) 618406 AD, AR",
"entity_name": "MC4R",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:14:44.802399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MC4R were set to ",
"entity_name": "MC4R",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:14:23.956910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MC4R was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MC4R",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:13:27.420520+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:13:27.410272+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:13:18.886628+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:12:47.817659+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:12:15.690292+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiedemann-Steiner syndrome, MIM# 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:11:25.082301+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:11:25.072840+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:11:17.911634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:10:34.278179+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:09:54.900817+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiedemann-Steiner syndrome, MIM# 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:08:53.536420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:08:53.509051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:08:38.362813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:08:12.916160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2A were set to ",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:07:49.643900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:06:39.555886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM20 as ready",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:06:39.546903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm20 has been classified as Green List (High Evidence).",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:06:27.076121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172 AD",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:06:04.340050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM20 were set to ",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:05:43.590067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBM20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:05:12.125602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30871351; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:04:29.077767+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM20 as ready",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T20:04:29.068665+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm20 has been classified as Green List (High Evidence).",
"entity_name": "RBM20",
"entity_type": "gene"
}
]
}