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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=294",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=292",
"results": [
{
"created": "2025-02-07T17:06:29.331875+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tulp1 has been classified as Green List (High Evidence).",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:06:25.159749+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14, 600132 (3) to Leber congenital amaurosis 15, MIM#613843; Retinitis pigmentosa 14, MIM#600132",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:06:11.979899+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TULP1 were set to ",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:05:47.471487+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TXNL4A as ready",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:05:47.459697+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: txnl4a has been classified as Green List (High Evidence).",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:05:37.766176+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TXNL4A were changed from Burn-McKeown syndrome, 608572 (3) to Burn-McKeown syndrome, MIM#608572",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:05:24.165018+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TXNL4A were set to ",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:04:27.367923+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:04:12.950600+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYN1 as ready",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:04:12.935846+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syn1 has been classified as Green List (High Evidence).",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:04:08.174603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:03:53.761673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYN1 were set to ",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:03:16.774342+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYR as ready",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:03:16.761877+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyr has been classified as Green List (High Evidence).",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:02:59.057479+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA, 203100 (3) to Oculocutaneous albinism type 1 (MONDO:0018135); Albinism, oculocutaneous, type IA, MIM#203100; Albinism, oculocutaneous, type IB, MIM#606952",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:02:43.739214+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYR were set to ",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:02:20.971006+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA5 as ready",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:02:20.957844+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Green List (High Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:02:17.394117+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA5 were changed from Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive to Developmental and epileptic encephalopathy 44, MIM#617132",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:01:57.544318+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to ",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:01:26.991282+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13D as ready",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:01:26.980778+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13d has been classified as Green List (High Evidence).",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:01:23.089582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:01:02.628905+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13D were set to ",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:00:34.183377+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM3 as ready",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:00:34.164885+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:00:18.769829+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1514",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2025-02-07T17:00:13.621218+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1514",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: AMBER",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:59:50.298850+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYO7A as ready",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:59:50.287953+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myo7a has been classified as Green List (High Evidence).",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:59:46.922356+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYO7A were changed from Usher syndrome, type 1B, 276900 (3) to Usher syndrome, type 1B, MIM# 276900",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:59:33.487856+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYO7A were set to ",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:59:24.866842+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1512",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22243965, 27306358, 35999711; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:58:57.821258+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: VKORC1.",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:58:09.334219+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:57:59.904490+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAS as ready",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:57:59.894028+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: was has been classified as Green List (High Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:57:55.101995+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, 301000 (3) to Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:57:43.401020+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAS were set to ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:57:12.441937+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WRN as ready",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:57:12.421037+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wrn has been classified as Green List (High Evidence).",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:57:08.113738+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WRN were changed from Werner syndrome, 277700 (3) to Werner syndrome, MIM#277700",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:56:54.866205+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WRN were set to ",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:56:38.713017+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:55:49.497048+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV1 as ready",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:55:49.484310+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:55:45.405132+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:55:31.202587+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV1 were set to ",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:55:04.953389+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCA4 as ready",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:55:04.929859+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abca4 has been classified as Red List (Low Evidence).",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:54:45.765992+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACSF3 as ready",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:54:45.753021+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Red List (Low Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:54:42.150971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACSF3 were set to ",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:54:08.776733+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC1 as ready",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:54:08.730481+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc1 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:54:02.737967+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC1 were changed from Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) to Myoclonic epilepsy of Lafora 2, MIM# 620681",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:53:39.109685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHLRC1 were set to ",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:53:14.345970+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: UQCRC2.",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:52:43.835681+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1503",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29442328, 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607), VACTERL association, X-linked, MIM# 314390, MONDO:0010752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:52:38.321089+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KNL1 as ready",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:52:38.309334+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: knl1 has been classified as Green List (High Evidence).",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:52:35.240361+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive, 604321 (3) to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:52:22.605774+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KNL1 were set to ",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:51:30.476609+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT5 as ready",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:51:30.465783+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt5 has been classified as Green List (High Evidence).",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:50:23.607218+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1501",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301360, 21424115, 11343052, 11281457; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:50:17.198786+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT5 were changed from EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599 to Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:49:57.960333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:49:42.319707+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT5 were set to ",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:49:07.120615+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMC2 as ready",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:49:07.099980+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc2 has been classified as Green List (High Evidence).",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:49:03.580458+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:48:36.238264+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:47:50.885001+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PKD1L1.",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:47:15.265032+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH3PXD2B as ready",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:47:15.252738+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh3pxd2b has been classified as Green List (High Evidence).",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:47:11.312789+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH3PXD2B were changed from Frank-ter Haar syndrome, 249420 (3) to Frank-ter Haar syndrome, MIM#249420",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:47:10.781194+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1496",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:47:10.135947+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1496",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: GREEN",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:46:59.047363+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH3PXD2B were set to ",
"entity_name": "SH3PXD2B",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:46:19.513086+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN3 as ready",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:46:19.498958+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn3 has been classified as Green List (High Evidence).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:46:16.546398+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18, 614815 (3) to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:46:02.215217+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN3 were set to ",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:46:01.774624+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1493",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 11281457, 11343052, 12424587; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:45:38.968546+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMTC3 as ready",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:45:38.957344+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmtc3 has been classified as Green List (High Evidence).",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:45:33.657464+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, 617255 (3), Autosomal recessive to Lissencephaly 8 MIM#617255, MONDO:0014992",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:45:15.649836+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMTC3 were set to ",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:44:47.884877+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:44:47.866645+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:44:36.108414+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:44:22.986075+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TREX1 were set to ",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:43:42.912673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMU as ready",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:43:42.899711+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Green List (High Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:43:38.701105+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMU were changed from Liver failure, transient infantile, 613070 (3) to Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:43:25.259772+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMU were set to ",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:43:01.011322+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A1 as ready",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:43:00.998324+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2025-02-07T16:42:57.066406+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1, 601678 (3) to Bartter syndrome, type 1, MIM#601678",
"entity_name": "SLC12A1",
"entity_type": "gene"
}
]
}