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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1040",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1038",
"results": [
{
"created": "2022-01-19T18:45:51.407676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vrk1 has been classified as Green List (High Evidence).",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:45:10.446520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAMP1 as ready",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:45:10.429043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Green List (High Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:45:04.327404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAMP1 were changed from Myasthenic syndrome, congenital, 25 to Myasthenic syndrome, congenital, 25, MIM# 618323",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:44:44.918495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VAMP1 as Green List (high evidence)",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:44:44.909085+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vamp1 has been classified as Green List (High Evidence).",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:44:10.867380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:44:10.858704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:44:07.124519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP9X were changed from MENTAL RETARDATION, X-LINKED 99 to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:43:55.513501+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP9X were set to ",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:43:43.536670+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP9X as Green List (high evidence)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:43:43.524184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:43:10.038220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP27X as ready",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:43:10.028396+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp27x has been classified as Red List (Low Evidence).",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:42:56.764519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP27X were changed from INTELLECTUAL DISABILITY to Mental retardation, X-linked 105, MIM#300984",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:42:45.694898+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP27X were set to ",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:42:29.885229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP27X as Red List (low evidence)",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:42:29.875254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp27x has been classified as Red List (Low Evidence).",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:42:17.705907+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four individuals from two unrelated families reported. \nSources: Expert list; to: Four individuals from two unrelated families reported. Post-natal presentation.\r\n\r\nSources: Expert list",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:42:07.720916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP27X: Changed rating: RED",
"entity_name": "USP27X",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:41:13.197287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP18 as ready",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:41:13.185829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Green List (High Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:41:04.460566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP18 were changed from to Pseudo-TORCH syndrome 2 MIM#617397",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:40:44.941995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP18 were set to ",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:40:25.941695+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:40:08.640927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: USP18: Changed publications: 31940699, 12833411, 27325888",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:39:51.835777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:38:01.395124+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP18 as ready",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:38:01.380132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Green List (High Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:37:57.179541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP18 were changed from Pseudo-TORCH syndrome 2, 617397 to Pseudo-TORCH syndrome 2, MIM#617397",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:37:35.200354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP18 as Green List (high evidence)",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:37:35.189593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Green List (High Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:35:01.822232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:33:28.647288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRQ as ready",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:33:28.637946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Red List (Low Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:33:25.657244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCRQ were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED to Mitochondrial complex III deficiency, nuclear type 4, MIM #615159",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:33:14.069386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCRQ were set to ",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:33:03.081966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRQ as Red List (low evidence)",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:33:03.065868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrq has been classified as Red List (Low Evidence).",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:32:50.917584+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:31:23.867197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRB as ready",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:31:23.856508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrb has been classified as Red List (Low Evidence).",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:31:16.398624+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCRB were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED to Mitochondrial complex III deficiency, nuclear type 3, MIM #615158",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:31:03.762354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCRB were set to ",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:30:47.910862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCRB as Red List (low evidence)",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:30:47.900322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrb has been classified as Red List (Low Evidence).",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:30:35.268378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:29:04.975304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBTF as ready",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:29:04.965519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubtf has been classified as Red List (Low Evidence).",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:29:00.441143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBTF were changed from Childhood-Onset Neurodegeneration to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:28:49.231216+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBTF were set to ",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:28:38.644445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:28:28.779653+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBTF as Red List (low evidence)",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:28:28.763171+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubtf has been classified as Red List (Low Evidence).",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:28:14.669430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBTF: Changed rating: RED",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:27:33.011213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2T as ready",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:27:33.000287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:26:37.153125+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2T were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP T to Fanconi anaemia, complementation group T, MIM# 616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:26:04.148943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2T were set to 26046368",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:25:48.769409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE2T as Green List (high evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:25:48.759461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-01-19T18:25:39.611033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: UBE2T.",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-01-19T11:16:26.892086+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-01-19T11:16:26.880853+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-01-19T11:16:22.243480+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CLN6 as Green List (high evidence)",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-01-19T11:16:22.207411+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:24:51.527187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNDC15 as ready",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:24:51.517800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txndc15 has been classified as Green List (High Evidence).",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:24:47.582134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome to Meckel Gruber syndrome, MONDO:0018921",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:24:08.508355+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TXNDC15 were set to 27894351",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:23:50.227832+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TXNDC15 as Green List (high evidence)",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:23:50.216592+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txndc15 has been classified as Green List (High Evidence).",
"entity_name": "TXNDC15",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:23:16.281429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUFM as ready",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:23:16.269985+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tufm has been classified as Green List (High Evidence).",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:23:12.499988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUFM were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 to Combined oxidative phosphorylation deficiency 4, MIM #610678",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:22:48.420055+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUFM were set to ",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:22:36.467052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUFM as Green List (high evidence)",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:22:36.452686+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tufm has been classified as Green List (High Evidence).",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:22:25.261760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: IUGR is a feature.; to: IUGR is a feature. Micropolymicrogyria also reported.",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:22:00.635513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:20:57.624534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:20:57.614740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:20:53.066214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBGCP4 were changed from AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. to Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:20:36.740150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBGCP4 as Green List (high evidence)",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:20:36.729333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:20:22.449974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBGCP4: Changed rating: GREEN",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:20:15.259205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:19:52.328232+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTI2 as ready",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:19:52.317590+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti2 has been classified as Green List (High Evidence).",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:19:47.180642+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTI2 as Green List (high evidence)",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:19:47.170290+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti2 has been classified as Green List (High Evidence).",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:19:23.331426+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTI2 was added\ngene: TTI2 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTI2 were set to 32061250; 23956177; 31737043\nPhenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39 (MIM#615541)\nReview for gene: TTI2 was set to GREEN\nAdded comment: PMID: 32061250 reviews reports of TTI2-related ID in 6 families. Common features are microcephaly and DD, but there is phenotypic variability reported with syndromic and non-syndromic individuals. Other features include speech delay, short stature, dysmorphic features (high nasal bridge, deep-set eyes), strabismus and dyskenesia. Six missense and one NMD were reported in hom and cHet individuals. Functional evidence is limited, but suggestive of LoF (PMIDs: 23956177, 31737043). \nSources: Expert Review",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:18:01.845543+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTI2 as ready",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:18:01.835011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti2 has been classified as Green List (High Evidence).",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:17:57.135799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 39 (MIM#615541); Microcephaly",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:17:39.465614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTI2 were set to ",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:17:27.327116+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTI2 as Green List (high evidence)",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:17:27.317575+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti2 has been classified as Green List (High Evidence).",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:16:25.530344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 2 families reported with PCD. Mouse model showed immotile nodal cilia.\r\nGene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats. (Gene is non coding in gnomad v2 and coding in v3); to: 2 families reported with PCD. Some individuals had situs inversus. Mouse model showed immotile nodal cilia.\r\nGene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats. (Gene is non coding in gnomad v2 and coding in v3)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2022-01-18T19:16:10.381114+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC25 as ready",
"entity_name": "TTC25",
"entity_type": "gene"
}
]
}