HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=977",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=975",
"results": [
{
"created": "2022-02-23T14:50:38.386804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STAG1: Changed rating: RED",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:49:56.137677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:49:56.126113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:49:48.759139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:49:35.130241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A6 were set to ",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:49:16.145123+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Angelman-like disorder. ID, seizures, microcephaly. More than 20 unrelated families reported, functional data including mouse model.; to: Angelman-like disorder. ID, seizures, microcephaly. More than 20 unrelated families reported, functional data including mouse model. Clinical presentation is typically post-natal.",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:48:54.126355+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC9A6: Changed rating: RED",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:40:33.551415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC46A1 as ready",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:40:33.520418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:40:05.245973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC46A1 were changed from HEREDITARY FOLATE MALABSORPTION to Folate malabsorption, hereditary, MIM# 229050",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:39:46.807343+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC46A1 were set to ",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:39:12.516246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC46A1: Changed rating: RED",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:38:37.671825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:38:37.660511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:38:33.697094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib 232220 to Glycogen storage disease Ib 232220; Congenital disorder of glycosylation, type IIw 619525",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:38:12.662392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC37A4 were set to ",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:37:41.474942+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic LOF variants in this gene cause glycogen storage disorder.\r\n\r\nSingle individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease. \nSources: Literature; to: Bi-allelic LOF variants in this gene cause glycogen storage disorder. Clinical presentation is typically post-natal.\r\n\r\nSingle individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease. \r\nSources: Literature",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:37:18.723672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC37A4: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:36:20.184238+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A2 as ready",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:36:20.171822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:36:13.752477+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A2 were changed from FANCONI-BICKEL SYNDROME to Fanconi-Bickel syndrome, MIM# 227810",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:35:57.034901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC2A2: Changed rating: RED",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:35:50.109953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Presentation is typically with liver and renal dysfunction, ID is not a consistent/prominent feature.; to: Presentation is typically with liver and renal dysfunction post-natally.",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:35:10.961500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:35:10.949533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:35:06.901286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC22A5 were changed from SYSTEMIC PRIMARY CARNITINE DEFICIENCY to Carnitine deficiency, systemic primary, MIM#212140",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:34:49.646732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Encephalopathy due to episodes of hypoglycaemia, ID is not part of the phenotype.; to: Clinical presentation is typically post-natal.",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:48:29.813850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A1 as ready",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:48:29.802491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:48:26.041319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME TYPE 2; GLUT1 DEFICIENCY SYNDROME TYPE 1 to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:48:05.686365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:47:52.079727+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive microcephaly is a feature.; to: Typically presents post-natally.",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:47:32.895600+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC2A1: Changed rating: RED",
"entity_name": "SLC2A1",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:41:44.165200+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKIV2L as ready",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:41:44.154795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Green List (High Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:41:29.914087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SKIV2L were changed from TRICHOHEPATOENTERIC SYNDROME 2 to Trichohepatoenteric syndrome 2, MIM#614602",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:41:14.284749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SKIV2L as Green List (high evidence)",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:41:14.268595+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: skiv2l has been classified as Green List (High Evidence).",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:41:01.891087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2, MIM#614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:34:50.055563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM4 as ready",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:34:50.043422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Red List (Low Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:34:40.521813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHROOM4: Changed rating: RED",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:34:30.359398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM4 as Red List (low evidence)",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:34:30.349139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Red List (Low Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:33:39.105014+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHROOM4: Changed rating: AMBER",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:33:32.209576+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families only, clinical presentation is typically post-natal.; to: Two families only, clinical presentation is typically post-natal; there are only two P/LP variants in this gene in ClinVar. Fetus identified as part of an ACC cohort with LoF variant in SHROOM4, PMID 32565546.",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:31:54.481585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHROOM4: Changed publications: 16249884, 26740508, 32565546",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:28:28.707880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHROOM4 were set to 32565546",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:27:33.654681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families only.; to: Two families only, clinical presentation is typically post-natal.",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:27:18.711564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHROOM4: Changed rating: RED",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:26:08.684225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCA as ready",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:26:08.674371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgca has been classified as Red List (Low Evidence).",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:25:56.324394+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Clinical presentation is typically post-natal.",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:25:12.988458+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENON as ready",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:25:12.976494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenon has been classified as Red List (Low Evidence).",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:25:02.250229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-02-23T13:24:37.342976+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Clinical presentation is typically post-natal.",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:43:03.445677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHAF1 as ready",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:43:03.434428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhaf1 has been classified as Red List (Low Evidence).",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:42:58.454187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF1 were changed from MITOCHONDRIAL COMPLEX II DEFICIENCY to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:42:36.958620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHAF1 were set to ",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:42:16.698700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 families reported, functional data. Presentation is typically with leukoencephalopathy.; to: More than 5 families reported, functional data. Presentation is typically post-natal.",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:42:03.655146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDHAF1: Changed rating: RED",
"entity_name": "SDHAF1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:40:05.877811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCO1 as ready",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:40:05.867373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sco1 has been classified as Red List (Low Evidence).",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:39:54.177993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCO1 were set to ",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:38:45.417504+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN7A as ready",
"entity_name": "SCN7A",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:38:45.405339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn7a has been classified as Red List (Low Evidence).",
"entity_name": "SCN7A",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:38:13.342622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1B as ready",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:38:13.332243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1b has been classified as Red List (Low Evidence).",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:38:00.927767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1B were changed from EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1; BRUGADA SYNDROME 5 to Epileptic encephalopathy, early infantile, 52, MIM#617350; Atrial fibrillation, familial, 13, MIM# 615377",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:37:43.972083+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:37:29.395137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note heterozygous variants linked to cardiac phenotypes and to GEFS+. Bi-allelic variants cause EE/ID.; to: Note heterozygous variants linked to cardiac phenotypes and to GEFS+. Bi-allelic variants cause EE/ID.\r\n\r\nClinical presentation is typically post-natal.",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:37:14.342005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN1B: Changed phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350, Atrial fibrillation, familial, 13, MIM# 615377",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:36:58.700825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN1B: Changed rating: RED; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:35:08.001122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PURA as ready",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:35:07.990119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Amber List (Moderate Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:34:36.110855+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PURA were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 31, MIM# 616158",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:34:23.498398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PURA were set to ",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:34:10.638997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PURA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:34:01.443954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PURA as Amber List (moderate evidence)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:34:01.431673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Amber List (Moderate Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:33:49.065430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals reported with de novo variants in this gene and severe ID, hypotonia, apnoea, seizures.; to: Multiple individuals reported with de novo variants in this gene and severe ID, hypotonia, apnoea, seizures.\r\n\r\nTypically presents post-natally, but congenital heart disease reported in some.",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:33:08.853542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PURA: Changed rating: AMBER",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:31:09.982408+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASA2 as ready",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:31:09.970043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:31:05.315313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RASA2 as Amber List (moderate evidence)",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:31:05.303887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasa2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:30:20.354147+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK1 as ready",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:30:20.344278+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:30:16.239479+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Green List (high evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:30:16.230229+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:29:40.808361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3915",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ALB was added\ngene: ALB was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALB were set to 23730173; 15300429; 31057599\nPhenotypes for gene: ALB were set to Analbuminemia- MIM#616000\nReview for gene: ALB was set to GREEN\nAdded comment: Biallelic variants associated with congenital analbuminaemia. Prenatal features include IUGR and oligohydramnios.\r\n\r\nAllelic condition OMIM# 615999\r\nMono-allelic disease and dysalbuminemic hyperthyroxinemia: gain-of-function mechanism, missense variants of ALB with increased affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment. \nSources: Literature",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:29:23.444279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK1 as ready",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:29:23.427853+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:29:17.785395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK1 as Green List (high evidence)",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:29:17.775185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Green List (High Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:28:39.505127+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD3 as ready",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:28:39.489184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod3 has been classified as Green List (High Evidence).",
"entity_name": "PLOD3",
"entity_type": "gene"
},
{
"created": "2022-02-23T12:28:35.792604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD3 were changed from Lysyl hydroxylase 3 deficiency - MIM#612394 to Lysyl hydroxylase 3 deficiency - MIM#612394; Stickler-syndrome like",
"entity_name": "PLOD3",
"entity_type": "gene"
}
]
}