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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1915",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1913",
"results": [
{
"created": "2020-03-01T20:29:13.430553+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM8 were changed from to Intellectual disability; Seizures",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:28:43.661604+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM8 were set to ",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:28:14.000688+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIM8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:27:38.931648+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:26:36.662359+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Six unrelated individuals reported. \nSources: Expert list; to: Six unrelated individuals reported. All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely.\r\nSources: Expert list",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:26:12.373950+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM8 as ready",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:26:12.346310+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim8 has been classified as Green List (High Evidence).",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:26:05.848060+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM8 as Green List (high evidence)",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:26:05.834155+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim8 has been classified as Green List (High Evidence).",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:25:32.486261+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM8 was added\ngene: TRIM8 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM8 were set to 30244534; 27346735; 23934111\nPhenotypes for gene: TRIM8 were set to Intellectual disability; Seizures\nReview for gene: TRIM8 was set to GREEN\ngene: TRIM8 was marked as current diagnostic\nAdded comment: Six unrelated individuals reported. \nSources: Expert list",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:10:19.261781+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:08:12.257662+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAK1 as ready",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:08:12.244174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trak1 has been classified as Green List (High Evidence).",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:08:07.216215+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAK1 were changed from to Epileptic encephalopathy, early infantile, 68, MIM# 618201",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:07:33.160027+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAK1 were set to ",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:07:00.578798+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:06:25.135150+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:02:17.891128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAIP as ready",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:02:17.882008+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traip has been classified as Green List (High Evidence).",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:02:03.682397+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAIP as Green List (high evidence)",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:02:03.668523+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traip has been classified as Green List (High Evidence).",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2020-03-01T20:01:30.605445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAIP was added\ngene: TRAIP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAIP were set to Seckel syndrome 9, MIM#616777\nReview for gene: TRAIP was set to GREEN\ngene: TRAIP was marked as current diagnostic\nAdded comment: Sources: Expert list",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:57:51.360338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPK1 as ready",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:57:51.347578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Red List (Low Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:57:46.126390+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:57:14.290386+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:56:42.584059+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPK1 as Red List (low evidence)",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:56:42.575659+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Red List (Low Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:56:08.269229+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:53:21.233076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPH2 as ready",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:53:21.224651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tph2 has been classified as Red List (Low Evidence).",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:53:11.508509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPH2 were changed from to {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:52:47.439088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPH2 were set to ",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:52:47.409054+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPH2 as ready",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:52:47.395773+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tph2 has been classified as Red List (Low Evidence).",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:52:17.191771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:51:56.026092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPH2 as Red List (low evidence)",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:51:56.017307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tph2 has been classified as Red List (Low Evidence).",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:51:48.238854+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPH2 were changed from to {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:51:20.493308+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPH2 were set to ",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:50:52.518111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPH2: Rating: RED; Mode of pathogenicity: None; Publications: 18347598; Phenotypes: {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:50:45.692877+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:50:17.098141+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPH2 as Red List (low evidence)",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:50:17.090074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tph2 has been classified as Red List (Low Evidence).",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T19:49:26.590630+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPH2: Rating: RED; Mode of pathogenicity: None; Publications: 18347598; Phenotypes: {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPH2",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:51:28.302929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPOP as ready",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:51:28.290256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spop has been classified as Green List (High Evidence).",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:51:18.597163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPOP as Green List (high evidence)",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:51:18.588500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spop has been classified as Green List (High Evidence).",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:50:52.875355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPOP was added\ngene: SPOP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPOP were set to 32109420\nPhenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly\nMode of pathogenicity for gene: SPOP was set to Other\nReview for gene: SPOP was set to GREEN\nAdded comment: Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly. \nSources: Literature",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:48:36.986290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPOP as ready",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:48:36.977944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spop has been classified as Green List (High Evidence).",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:47:48.452060+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPOP as Green List (high evidence)",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:47:48.443795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spop has been classified as Green List (High Evidence).",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:47:14.412193+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPOP was added\ngene: SPOP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPOP were set to 32109420\nPhenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly\nMode of pathogenicity for gene: SPOP was set to Other\nReview for gene: SPOP was set to GREEN\nAdded comment: Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly. \nSources: Literature",
"entity_name": "SPOP",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:31:36.210830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNIK as ready",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:31:36.202047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnik has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:31:26.956610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNIK were changed from to Mental retardation, autosomal recessive 54, MIM# 617028",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:31:03.410073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNIK were set to ",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:30:43.029155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNIK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:30:21.945736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNIK as Amber List (moderate evidence)",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:30:21.937518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnik has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:29:59.766817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNIK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27106596, 23035106; Phenotypes: Mental retardation, autosomal recessive 54, MIM# 617028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:28:08.073372+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNIK as ready",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:28:08.060351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnik has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:27:58.930106+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNIK were changed from to Mental retardation, autosomal recessive 54, MIM# 617028",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:27:30.245293+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNIK were set to ",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:26:44.819001+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNIK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:26:12.497500+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNIK as Amber List (moderate evidence)",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:26:12.484415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnik has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:25:39.236136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNIK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27106596, 23035106; Phenotypes: Mental retardation, autosomal recessive 54, MIM# 617028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNIK",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:21:41.408554+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMLHE as Green List (high evidence)",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:21:41.399515+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmlhe has been classified as Green List (High Evidence).",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:21:10.669500+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMLHE was added\ngene: TMLHE was added to Autism. Sources: Expert list\nMode of inheritance for gene: TMLHE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TMLHE were set to 21865298\nPhenotypes for gene: TMLHE were set to {Autism, susceptibility to, X-linked 6}, MIM#300872\nReview for gene: TMLHE was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:20:29.718158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMLHE as ready",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:20:29.709382+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmlhe has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:19:46.708081+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMLHE were changed from to {Autism, susceptibility to, X-linked 6} 300872",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:19:37.328348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMLHE as ready",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:19:37.315132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmlhe has been classified as Green List (High Evidence).",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:19:19.960379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMLHE were changed from to {Autism, susceptibility to, X-linked 6}, MIM#300872",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:18:58.783137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMLHE were set to ",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:18:35.755990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMLHE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:18:22.072716+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMLHE were set to 21865298",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:18:11.715532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMLHE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21865298; Phenotypes: {Autism, susceptibility to, X-linked 6}, MIM#300872; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:18:03.294286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMLHE were set to ",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:17:04.914484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMLHE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:16:12.798880+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMLHE as Amber List (moderate evidence)",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:16:12.790212+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmlhe has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:15:38.645333+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMLHE: Rating: AMBER; Mode of pathogenicity: None; Publications: 21865298; Phenotypes: {Autism, susceptibility to, X-linked 6} 300872; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TMLHE",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:09:46.259853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM94 as ready",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:09:46.251541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Green List (High Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:09:36.453677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM94 as Green List (high evidence)",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:09:36.440434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Green List (High Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:09:14.288298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM94 was added\ngene: TMEM94 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM94 were set to 30526868\nPhenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316\nReview for gene: TMEM94 was set to GREEN\nAdded comment: 10 individuals from 6 unrelated families. \nSources: Expert list",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:07:15.273482+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM94 as ready",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:07:15.263694+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Green List (High Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:07:03.814631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM94 as Green List (high evidence)",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:07:03.801145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem94 has been classified as Green List (High Evidence).",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:06:30.826425+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM94 was added\ngene: TMEM94 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM94 were set to 30526868\nPhenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316\nReview for gene: TMEM94 was set to GREEN\nAdded comment: 10 individuals from 6 unrelated families. \nSources: Expert list",
"entity_name": "TMEM94",
"entity_type": "gene"
},
{
"created": "2020-03-01T16:03:04.290195+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM260 as ready",
"entity_name": "TMEM260",
"entity_type": "gene"
}
]
}