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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=340",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=338",
"results": [
{
"created": "2024-11-21T20:22:52.970944+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IFIH1 as ready",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T20:22:52.958786+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Green List (High Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T20:22:48.062606+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IFIH1 as Green List (high evidence)",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T20:22:48.051331+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Green List (High Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T20:21:54.871167+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFIH1 were set to 28606988; 29018476; 28716935; 34185153\nPhenotypes for gene: IFIH1 were set to Immunodeficiency 95 MIM#619773\nReview for gene: IFIH1 was set to GREEN\nAdded comment: Biallelic loss of function variants cause a predisposition to severe viral infections. IUIS IEI committee classify the condition as a defect in intrinsic and innate immunity. \nSources: Expert list",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:54:54.402411+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.592",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GCH1 as ready",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:54:54.397584+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.592",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Biallelic variants in GCH1 typically result in severe deficiency of GTPCH activity, and result in hyperphenylalaninemia due to secondary PAH deficiency. This can be identified by newborn screening. However, patients with phenotypes that are intermediate between the classic DRD and severe GTPCH deficiency symptoms have been described, such those with severe DRD and additional neurological features but without hyperphenylalaninemia (for review, see Table in Brüggemann et al 2012, PMID 22473768). Because the mechanism of disease in both the monoallelic and biallelic cases is loss of function of GTPCH, and there is a range of GTPCH activity that can cause disease, the decision was made to curate GCH1 for GTPCH deficiency with semi-dominant inheritance. Note that heterozygous parents of biallelic individuals are usually reported as unaffected, although there are some exceptions (Furukawa et al, 1998, PMID 9667588; Bodzioch et al, 2010, PMID 20842687). Reduced penetrance has been reported for individuals with monoallelic GCH1 variants, with penetrance varying according to age and diagnostic criteria. In addition, some variants (e.g. p.Arg184His and p.Lys224Arg) have been reported in monallelic and biallelic individuals. This data was presented to the ClinGen Lumping and Splitting Working Group on November 3, 2020 and there was agreement that GTPCH deficiency should be curated as a semi-dominant trait, including individuals with monoallelic and biallelic GCH1 variants.",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:54:54.358646+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.592",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Green List (High Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:54:46.978147+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.592",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) to GTP cyclohydrolase I deficiency MONDO:0100184",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:51:37.722278+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.591",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GCH1 were set to ",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:50:20.742706+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.590",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ALS2 as ready",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:50:20.720776+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.590",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: als2 has been classified as Green List (High Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:50:15.854617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.590",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, 606353 (3) to ALS2-related motor neuron disease (MONDO:0100227)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:49:18.927758+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.589",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ALS2 were set to ",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:47:45.496772+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: F7 as ready",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:47:45.486340+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: f7 has been classified as Green List (High Evidence).",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:46:51.225216+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FARS2 as ready",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:46:51.214040+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Green List (High Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:46:45.387917+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: FARS2 were changed from Combined oxidative phosphorylation deficiency 14, 614946 (3) to Combined oxidative phosphorylation deficiency 14 (MIM#614946); Spastic paraplegia 77 (MIM#617046)",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:46:21.312875+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.587",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FARS2 were set to ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:44:43.486573+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.586",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:44:43.475377+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.586",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:44:31.150337+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.586",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Myopathy caused by variation in FKRP MONDO:0700066",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:44:02.471476+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.585",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to 38277301",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:42:36.297720+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.584",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:41:26.348989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.583",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FLVCR1 as ready",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:41:26.336932+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.583",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: flvcr1 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:41:21.215067+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.583",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: FLVCR1 were changed from Ataxia, posterior column, with retinitis pigmentosa, 609033 (3) to Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-11-21T19:40:10.526077+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.582",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FLVCR1 were set to ",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-11-21T17:19:40.753987+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: None; Publications: 7980680, 27183977, 15565265; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2024-11-21T15:43:49.235427+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10737119, 9667588; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-11-21T14:40:45.498130+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: 20869035, 30006055, 15988748, 17764081; Phenotypes: Diaphanospondylodysostosis, MIM# 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2024-11-21T14:23:06.542782+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 8203166, 36720431, 33082983; Phenotypes: Fraser syndrome, 219000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2024-11-21T14:04:39.703583+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17676042, 20142620; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:59:01.094402+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD27 as ready",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:59:01.084621+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:58:57.786438+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD27 were changed from Lymphoproliferative syndrome 2, 615122 (3) to Lymphoproliferative syndrome 2, MIM# 615122",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:58:46.804103+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD27 were set to ",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:58:33.112368+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, MIM# 615122; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:57:06.258947+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 37675773; Phenotypes: Keutel syndrome MIM#245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:57:00.758255+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAVIN1 as ready",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:57:00.745327+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cavin1 has been classified as Green List (High Evidence).",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:56:57.817619+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4, 613327 (3) to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:56:46.358158+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAVIN1 were set to ",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:56:31.953761+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:37.155743+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB4 as ready",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:37.144787+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb4 has been classified as Green List (High Evidence).",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:34.007174+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3, 602347 (3) to Cholestasis, progressive familial intrahepatic 3 MIM#602347",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:22.118658+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB4 were set to ",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:53:09.642970+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17726488; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:52:10.206971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32420688, 30046013, 32857899, 36330313, 36816387, 36714646; Phenotypes: Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:34.066423+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CANT1 as ready",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:34.049258+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cant1 has been classified as Green List (High Evidence).",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:30.899772+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CANT1 were changed from Desbuquois dysplasia, 251450 (3) to Desbuquois dysplasia 1, MIM# 251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:19.272803+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CANT1 were set to ",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:49:01.454367+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1, MIM# 251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:52.884333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C2CD3 as ready",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:52.869840+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c2cd3 has been classified as Green List (High Evidence).",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:48.650470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:45.977408+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.572",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618959, 27604308, 29068549, 32304187; Phenotypes: Greenberg skeletal dysplasia MIM#215140, MONDO:0008974 & Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:36.684699+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C2CD3 were set to ",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:47:19.670488+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:46:36.232163+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:46:23.862423+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "edited their review of gene: FKBP10: Added comment: Severe, early onset. Early-onset bone fractures and progressive skeletal deformities. Well established gene-disease association.; Changed phenotypes: Bruck syndrome 1, 259450 (3), osteogenesis imperfecta, type XI, 610968 (3)",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:56.726414+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:56.698757+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Green List (High Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:49.243788+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from Combined oxidative phosphorylation deficiency 7, 613559 (3) to Combined oxidative phosphorylation deficiency 7, MIM# 613559; Spastic paraplegia 55, autosomal recessive, MIM#615035",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:37.319769+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:25.840163+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C12orf65.",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:45:18.006883+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM#615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:44:49.338690+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362275, 22718341, 22689593, 22718341; Phenotypes: Bruck syndrome 1, 259450 (3), steogenesis imperfecta, type XI, 610968 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:37.956745+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:37.925809+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Green List (High Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:34.670061+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive to Acromesomelic dysplasia 3, MIM# 609441",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:40:08.260343+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPR1B were set to ",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:39:55.051464+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia 3, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:56.274815+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: MALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3727036, 24332264, 14576442, 31037583; Phenotypes: Immunodeficiency 12 MIM#615468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:55.203410+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:55.177866+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:52.320364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome, 210900 (3) to Bloom Syndrome MIM# 210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:40.892614+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLM were set to ",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:36:22.135976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 17407155, 9285778, 7585968, 8079989, 12242442, 11101838; Phenotypes: Bloom Syndrome MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:29:32.593841+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:29:32.574938+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Green List (High Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:29:25.587612+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:29:13.134985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APTX were set to ",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:28:58.068582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:50.359813+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG6 as ready",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:50.341250+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg6 has been classified as Green List (High Evidence).",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:46.691592+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG6 were changed from Congenital disorder of glycosylation, type Ic, 603147 (3) to Congenital disorder of glycosylation, type Ic (MIM#603147)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:34.291150+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG6 were set to ",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:27:19.630947+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:26:08.015168+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879, 36126956, 37529055; Phenotypes: Alazami syndrome MIM#615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:36.071681+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPS as ready",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:36.057498+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agps has been classified as Green List (High Evidence).",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:32.167746+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPS were changed from Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:19.814751+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPS were set to ",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:23:03.853561+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:21:37.861092+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive, 612319 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2024-11-21T13:18:06.597691+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
}
]
}