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{
"count": 220806,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1002",
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"results": [
{
"created": "2022-02-09T17:23:34.818056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI1 were set to ",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:11.078049+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:00.353378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI1 as Red List (low evidence)",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:00.339596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai1 has been classified as Red List (Low Evidence).",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:22:46.056242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 7 de novo missense and 1 PTV variants reported in the DDD paper Table 1.; to: 7 de novo missense and 1 PTV variants reported in the DDD paper Table 1. Typically presents post-natally.",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:21:45.134943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAI1: Changed rating: RED",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:09.923409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNA14 as ready",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:09.912152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna14 has been classified as Red List (Low Evidence).",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:01.632623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNA14 as Red List (low evidence)",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:01.620806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna14 has been classified as Red List (Low Evidence).",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:34.296288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMNN as ready",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:34.279920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Green List (High Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:23.512038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMNN were set to ",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:02.257122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMNN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:13:45.426807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMNN as Green List (high evidence)",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:13:45.414035+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Green List (High Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:13:29.414558+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two of the three reported individuals had ID. \nSources: Expert list; to: IUGR is a key feature.\r\n\r\nSources: Expert list",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:13:15.803179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GMNN: Changed rating: GREEN; Changed phenotypes: Meier-Gorlin syndrome 6, MIM# 616835",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:30:15.188744+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLIS2 as ready",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:30:15.177270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glis2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:30:05.641748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS2 were changed from NEPHRONOPHTHISIS 7 to Nephronophthisis 7, OMIM#611498; MONDO:0012680",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:28:04.503586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS2 were set to ",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:27:14.289757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFPT1 as ready",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:27:14.276468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfpt1 has been classified as Red List (Low Evidence).",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:27:10.062141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GFPT1 were set to ",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:26:54.075437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFPT1 as Red List (low evidence)",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:26:54.064046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfpt1 has been classified as Red List (Low Evidence).",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:26:40.779928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 15 unrelated families reported with bi-allelic variants and a congenital myasthenic syndrome. Two families with leukoencephalopathy as well as CMS.\r\n\r\nThe GFPT1 gene encodes an isoform of glutamine:fructose-6-phosphate amidotransferase (GFAT), which catalyzes the transfer of an amino group from glutamine onto fructose-6-phosphate, yielding glucosamine 6-phosphate and glutamate. It is the first and rate-limiting enzyme of the hexosamine biosynthetic pathway. Hexosamine is the obligatory source of essential amino sugars for the synthesis of glycoproteins, glycolipids, and proteoglycans. Muscle samples from several patients showed decreased protein glycosylation, suggesting this is a disorder of glycosylation. However, there is also some data put forward in PMID 30635494 that this may be a mitochondrial condition.; to: 15 unrelated families reported with bi-allelic variants and a congenital myasthenic syndrome. Two families with leukoencephalopathy as well as CMS.\r\n\r\nPresentation typically in childhood/adolescence.\r\n\r\n",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:26:19.195920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GFPT1: Changed rating: RED",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:24:37.615543+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALNT2 as ready",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:24:37.605094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galnt2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:24:27.059517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. \nSources: Literature; to: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.\r\n\r\nMicrocephaly and poor growth but age of onset of these features is uncertain.\r\n\r\nSources: Literature",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:24:00.638541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GALNT2: Changed phenotypes: Congenital disorder of glycosylation, type IIt, MIM# 618885",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:23:42.975346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GALNT2: Changed rating: AMBER",
"entity_name": "GALNT2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:22:16.777981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRG2 as ready",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:22:16.767649+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg2 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:22:12.710153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRG2 were changed from EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:21:50.339762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRG2 were set to ",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:21:38.265435+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:21:27.048149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRG2 as Red List (low evidence)",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:21:27.037275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabrg2 has been classified as Red List (Low Evidence).",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:21:15.223768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple unrelated families reported, variable severity of both seizures and ID.; to: Multiple unrelated families reported, variable severity of both seizures and ID. Typically presents post-natally.",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:21:03.285510+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRG2: Changed rating: RED",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:20:31.889923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA1 as ready",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:20:31.876495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra1 has been classified as Red List (Low Evidence).",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:19:20.131922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA1 were changed from JUVENILE MYOCLONIC EPILEPSY; EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:19:07.036899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRA1 were set to ",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:18:48.901560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:18:38.323719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA1 as Red List (low evidence)",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:18:38.313016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra1 has been classified as Red List (Low Evidence).",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:18:14.920913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID: 11992121; 1 large family with Juvenile Myoclonic Epilepsy PMID: 21714819; 2 probands with idiopathic generalized epilepsy PMID: 24623842; 4 patients with Dravet syndrome PMID: 30842224; non-MECP2 probands with Rett-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. Total of 1 family with SNV in GABRA1 in Rett-like cohort.; to: PMID: 11992121; 1 large family with Juvenile Myoclonic Epilepsy PMID: 21714819; 2 probands with idiopathic generalized epilepsy PMID: 24623842; 4 patients with Dravet syndrome PMID: 30842224; non-MECP2 probands with Rett-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. Total of 1 family with SNV in GABRA1 in Rett-like cohort.\r\n\r\nTypically presents post-natally.",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-09T08:18:01.806227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRA1: Changed rating: RED",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:47:31.386580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FZD5 as ready",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:47:31.375647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd5 has been classified as Red List (Low Evidence).",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:47:24.128664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FZD5 were set to ",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:47:12.199433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FZD5 as Red List (low evidence)",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:47:12.189941+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fzd5 has been classified as Red List (Low Evidence).",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:46:58.368810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FZD5: Changed rating: RED",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:46:49.398611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported. \nSources: Literature; to: Four unrelated families reported. Coloboma tends to be isolated, which would be difficult to detect antenatally.\r\nSources: Literature",
"entity_name": "FZD5",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:44:13.097691+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUT8 as ready",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:44:13.079132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut8 has been classified as Green List (High Evidence).",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:44:04.941920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUT8 were set to ",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:43:53.207656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUT8 as Green List (high evidence)",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:43:53.198353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut8 has been classified as Green List (High Evidence).",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-02-08T21:43:02.995384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated individuals reported with bi-allelic variants in this gene. \nSources: Expert list; to: Three unrelated individuals reported with bi-allelic variants in this gene. IUGR and congenital anomalies reported.\r\nSources: Expert list",
"entity_name": "FUT8",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:59:33.765048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:59:33.755821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Red List (Low Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:59:29.156298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUCA1 were changed from FUCOSIDOSIS to Fucosidosis, MIM# 230000",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:59:15.443222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUCA1 as Red List (low evidence)",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:59:15.433810+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Red List (Low Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:58:42.695904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRRS1L as ready",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:58:42.684401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frrs1l has been classified as Red List (Low Evidence).",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:58:35.670621+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRRS1L were changed from Epileptic encephalopathy with continuous spike-and-wave during sleep to Epileptic encephalopathy, early infantile, 37, MIM#616981",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:58:08.818122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRRS1L were set to ",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:57:56.619166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRRS1L as Red List (low evidence)",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:57:56.609169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frrs1l has been classified as Red List (Low Evidence).",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:57:41.384099+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five unrelated individuals reported. \nSources: Expert list; to: Five unrelated individuals reported. Presentation is typically post-natal.\r\nSources: Expert list",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:57:23.852279+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRRS1L: Changed rating: RED",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:56:01.911132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMPD4 as ready",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:56:01.899217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmpd4 has been classified as Green List (High Evidence).",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:55:57.356120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRMPD4 were changed from Intellectual Disability to Intellectual Disability, X-linked 104, MIM#300983",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:55:37.664451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRMPD4 were set to ",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:55:25.507852+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMPD4 as Green List (high evidence)",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:55:25.496091+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmpd4 has been classified as Green List (High Evidence).",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:55:12.751685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected individuals from unrelated families.; to: Multiple affected individuals from unrelated families. Corpus callosum abnormalities, retrognathia reported.",
"entity_name": "FRMPD4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:53:57.766525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP4 as ready",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:53:57.747467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:53:36.198384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:52:35.618229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP2 as ready",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:52:35.606300+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:52:14.328935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP2 were changed from SPEECH-LANGUAGE DISORDER 1 to Speech-language disorder-1, MIM# 602081",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:52:00.448887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP2 were set to ",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:45.580458+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:35.411671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP2 as Red List (low evidence)",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:35.401151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:23.144560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association but typically presents post-natally.",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:51:10.753825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXP2: Changed rating: RED",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:50:00.737948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIG4 as ready",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:50:00.726708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Green List (High Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2022-02-08T20:49:52.567161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FIG4 were changed from Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 to Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986",
"entity_name": "FIG4",
"entity_type": "gene"
}
]
}