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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1015",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1013",
"results": [
{
"created": "2022-01-31T18:57:09.991343+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:57:06.776288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:56:59.019836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDE10A: Added comment: Both disorders typically present post-natally.; Changed rating: RED; Changed phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921, Striatal degeneration, autosomal dominant, MIM#616922; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:18:49.006405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2980",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:PDE6H from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-31T18:17:56.296428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAICS as ready",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:17:56.287296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: paics has been classified as Red List (Low Evidence).",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:17:48.805163+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAICS as Red List (low evidence)",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:17:48.793991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: paics has been classified as Red List (Low Evidence).",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:17:37.287339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAICS: Rating: RED; Mode of pathogenicity: None; Publications: 31600779; Phenotypes: Polyhydramnios, multiple congenital abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:14:22.002482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS1 as ready",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:14:21.992520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs1 has been classified as Green List (High Evidence).",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:14:17.484304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS1 were changed from INTELLECTUAL DISABILITY to Schuurs-Hoeijmakers syndrome (MIM# 615009)",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:14:04.855172+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS1 were set to 30712880",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:13:47.533680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:13:45.324078+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2975",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KIAA0825 was added\ngene: KIAA0825 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0825 were set to 33776623; 32147526; 30982135\nPhenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10 - MIM#618498\nReview for gene: KIAA0825 was set to GREEN\nAdded comment: 4 families of Pakistani/Sindhi origin reported with post-axial polydactyly \nSources: Literature",
"entity_name": "KIAA0825",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:13:37.562496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PACS1 as Green List (high evidence)",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:13:37.549154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs1 has been classified as Green List (High Evidence).",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:13:26.987536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple individuals reported with recurrent p.Arg203Trp variant; in vitro assays is suggestive of dominant-negative disease mechanism; to: Multiple individuals reported with recurrent p.Arg203Trp variant; in vitro assays is suggestive of dominant-negative disease mechanism\r\n\r\nBrain, cardiac and renal abnormalities reported.",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:12:31.419093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P4HB as ready",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:12:31.405823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:12:26.917383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P4HB were set to ",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:12:14.524289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P4HB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:12:03.522275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: P4HB as Green List (high evidence)",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:12:03.508295+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p4hb has been classified as Green List (High Evidence).",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:11:17.306694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD5 as ready",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:11:17.295088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud5 has been classified as Green List (High Evidence).",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:11:03.826503+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTUD5 as Green List (high evidence)",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:11:03.815131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud5 has been classified as Green List (High Evidence).",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:07:37.146008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2970",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IQCE was added\ngene: IQCE was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQCE were set to 31549751; 28488682\nPhenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 - MIM#617642\nReview for gene: IQCE was set to GREEN\nAdded comment: Known association with polydactyly, syndactyly and brachydactyly. \nSources: Literature",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2022-01-31T18:00:30.095721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2970",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IFT27 was added\ngene: IFT27 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296\nPhenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19-MIM#615996\nReview for gene: IFT27 was set to GREEN\nAdded comment: Biallelic variants associated with Bardet-Biedl syndrome. Phenotypic features detectable antenatally include polydactyly, cardiac and brain anomalies also reported. \nSources: Literature",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2022-01-31T17:53:15.093787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2970",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HMGB1 was added\ngene: HMGB1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HMGB1 were set to 34164801\nPhenotypes for gene: HMGB1 were set to microcephaly; intellectual disability\nReview for gene: HMGB1 was set to GREEN\nAdded comment: 34164801 Uguen et al 2021 report 6 unrelated individuals with LoF HMGB1 variants associated with syndromic ID. 4 individuals reported to have microcephaly - majority noted to have microcephaly at birth +/- growth restriction. \nSources: Literature",
"entity_name": "HMGB1",
"entity_type": "gene"
},
{
"created": "2022-01-31T17:38:59.975749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2970",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FAM92A was added\ngene: FAM92A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM92A were set to 30395363\nPhenotypes for gene: FAM92A were set to Polydactyly, postaxial, type A9 - MIM#618219\nReview for gene: FAM92A was set to AMBER\nAdded comment: 30395363 - homozygous nonsense variants in FAM92A segregated with postaxial polydactyly in x1 consanguineous Parkistani family. Supportive mouse model reported. \nSources: Literature",
"entity_name": "FAM92A",
"entity_type": "gene"
},
{
"created": "2022-01-31T16:00:34.830898+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSGEP as ready",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-01-31T16:00:34.817622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osgep has been classified as Green List (High Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-01-31T16:00:30.453677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OSGEP were set to ",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-01-31T16:00:18.596632+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSGEP as Green List (high evidence)",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-01-31T16:00:18.586287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osgep has been classified as Green List (High Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-01-31T16:00:07.365883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 25 families reported. \nSources: Expert list; to: 25 families reported. IUGR and oligohydramnios are a feature.\r\nSources: Expert list",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:58:37.457546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUS1 as ready",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:58:37.446691+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nus1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:58:32.250182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUS1 were set to 31656175; 29100083; 610463; 25066056",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:58:15.157006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUS1 were changed from Epilepsy and intellectual disability to Congenital disorder of glycosylation, type 1aa, MIM#617082",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:57:45.906692+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUS1 were set to ",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:57:30.328828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:57:16.526438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUS1: Added comment: The CDG disorder caused by bi-allelic variants in this gene has iUGR as a feature. Note limited reports (one published, one ClinVar).\r\n\r\nThe DEE disorder associated with mono-allelic variants typically presents post-natally.; Changed rating: AMBER; Changed phenotypes: Congenital disorder of glycosylation, type 1aa; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:55:01.841811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP88 as ready",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:55:01.827926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:54:53.871761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP88 as Green List (high evidence)",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:54:53.862408+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:54:24.231760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP62 as ready",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:54:24.222447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Red List (Low Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:54:20.647353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP62 were changed from INFANTILE STRIATONIGRAL DEGENERATION to Striatonigral degeneration, infantile, MIM#271930",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:54:05.825915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP62 as Red List (low evidence)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:54:05.815733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Red List (Low Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:53:35.695557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: A neurodegenerative disorder rather than ID.; to: A neurodegenerative disorder with post-natal onset.",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:52:52.608819+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTRK2 as ready",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:52:52.597710+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntrk2 has been classified as Red List (Low Evidence).",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:52:49.036811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTRK2 were changed from Epilepsy and intellectual disability to Obesity, hyperphagia, and developmental delay, MIM# 613886; Developmental and epileptic encephalopathy 58, MIM# 617830",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:52:27.536596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NTRK2 were set to ",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:52:15.440936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NTRK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:52:05.599140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTRK2 as Red List (low evidence)",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:52:05.587841+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntrk2 has been classified as Red List (Low Evidence).",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:51:51.969737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated individuals reported with this phenotype.\r\nNote recurrent missense in this gene also causes EE. \nSources: Expert list; to: Clinical presentation for both disorders is typically post-natal.\r\n\r\nSources: Expert list",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:51:32.768322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NTRK2: Changed rating: RED; Changed phenotypes: Obesity, hyperphagia, and developmental delay, MIM# 613886, Developmental and epileptic encephalopathy 58, MIM# 617830",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:50:29.508206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSUN2 as ready",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:50:29.492703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsun2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:50:22.998990+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSUN2 were changed from AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 to Mental retardation, autosomal recessive 5, MIM# 611091",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:50:11.540022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSUN2 were set to ",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:49:53.208785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NSUN2: Added comment: Low birth weight reported. Microcephaly also reported, age of onset unclear.; Changed rating: AMBER; Changed publications: 22541559, 22541562, 22577224",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:40:08.530277+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRXN2 as ready",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:40:08.516122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrxn2 has been classified as Red List (Low Evidence).",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:40:04.936762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRXN2 were changed from AUTISM to Autism",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:39:54.948373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRXN2 were set to ",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:39:42.059596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:39:29.898188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NRXN2 as Red List (low evidence)",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:39:29.885622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrxn2 has been classified as Red List (Low Evidence).",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:27:41.269039+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from Neurodevelopmental disorder; Ataxia to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:27:24.987656+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:27:07.050951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from Neurodevelopmental movement disorders; Developmental Delay; Seizures to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:26:35.310280+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:26:07.471491+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:25:46.766307+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from Neurological Disorder; Developmental Delay; Seizures to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:25:14.357372+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:24:35.947593+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:24:16.846018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN2 were changed from Neurodevelopmental movement disorders; Developmental Delay; Seizures to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:23:54.730087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNN2: Changed phenotypes: Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:23:45.378535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, MIM#619725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNN2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:20:41.725588+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA20 were changed from Autosomal recessive developmental delay, intellectual disability, and microcephaly to Intellectual developmental disorder, autosomal recessive 73, MIM# 619717",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:20:08.456535+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA20: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 73, MIM# 619717",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:19:44.410785+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA20 as ready",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:19:44.400024+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa20 has been classified as Green List (High Evidence).",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:18:58.931803+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA20 were changed from Autosomal recessive developmental delay, intellectual disability, and microcephaly to Intellectual developmental disorder, autosomal recessive 73, MIM# 619717",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:18:32.702162+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 73, MIM# 619717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:18:05.390461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2951",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PDSS2: Rating: RED; Mode of pathogenicity: None; Publications: 29032433, 25349199, 17186472, 21723727, 10972372; Phenotypes: Coenzyme Q10 deficiency, primary, 3 MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:16:56.444731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10813",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29032433, 25349199, 17186472, 21723727, 10972372; Phenotypes: Coenzyme Q10 deficiency, primary, 3 MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:16:55.071828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA20 were changed from Intellectual disability; Microcephaly; Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal recessive 73, MIM# 619717",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T15:16:33.074210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA20: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 73, MIM# 619717",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2022-01-31T14:41:36.788275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10812",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PDHX: Changed rating: GREEN",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-01-31T14:41:19.594428+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2951",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: NDUFV1: Changed rating: RED",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-01-31T14:26:02.047208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2951",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: None; Publications: 20002125 34873726 33092611 30981218 25087164 22766002; Phenotypes: Lacticacidemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PDHX",
"entity_type": "gene"
}
]
}