HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=297",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=295",
"results": [
{
"created": "2025-02-05T13:40:07.484834+11:00",
"panel_name": "Cardiac conduction disease",
"panel_id": 4422,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DES was added\ngene: DES was added to Cardiac conduction disease. Sources: NHS GMS\nMode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DES were set to 39252922; 16376610; 16890305\nPhenotypes for gene: DES were set to heart conduction disease MONDO:0000992\nReview for gene: DES was set to GREEN\ngene: DES was marked as current diagnostic\nAdded comment: Cardiac conduction disease is a common feature of DES-related cardiomyopathy. \nSources: NHS GMS",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:17:42.686341+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.969",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTPMT1 as ready",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:17:42.670444+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.969",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpmt1 has been classified as Green List (High Evidence).",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:17:29.381827+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.969",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPMT1 as Green List (high evidence)",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:17:29.368288+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.969",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpmt1 has been classified as Green List (High Evidence).",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:17:01.861849+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTPMT1 as ready",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:17:01.840149+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpmt1 has been classified as Green List (High Evidence).",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:16:17.742180+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.968",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPMT1 was added\ngene: PTPMT1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPMT1 were set to 39279645; 37672386\nPhenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069\nReview for gene: PTPMT1 was set to GREEN\nAdded comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models. \nSources: Literature",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:16:01.335086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPMT1 as Green List (high evidence)",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:16:01.316285+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpmt1 has been classified as Green List (High Evidence).",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:13:36.480460+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPMT1 was added\ngene: PTPMT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPMT1 were set to 39279645; 37672386\nPhenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069\nReview for gene: PTPMT1 was set to GREEN\nAdded comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models. \nSources: Literature",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:11:25.657625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTPMT1 as ready",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:11:25.643876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpmt1 has been classified as Green List (High Evidence).",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:10:32.861856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPMT1 as Green List (high evidence)",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:10:32.850910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2290",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpmt1 has been classified as Green List (High Evidence).",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T13:10:11.313770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPMT1 was added\ngene: PTPMT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPMT1 were set to 39279645; 37672386\nPhenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069\nReview for gene: PTPMT1 was set to GREEN\nAdded comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models. \nSources: Literature",
"entity_name": "PTPMT1",
"entity_type": "gene"
},
{
"created": "2025-02-05T12:23:46.162668+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31206972, 37010288; Phenotypes: Wieacker-Wolff syndrome MIM#314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2025-02-05T12:06:56.814119+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2025-02-05T12:06:21.302503+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "commented on gene: ZAP70: The ZAP70 gene is associated with both Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 and Immunodeficiency 48 MIM#269840.\r\n\r\nGenotype-phenotype correlation:\r\n- ZAP70 LoF variants cause Immunodeficiency 48 MIM#269840 characterised by low CD8 number, normal CD4 number but with poor function.\r\n- ZAP70 combined hypomorphic and activating mutations cause decreased CD8, normal or decreased CD4 cells and severe autoimmunity resulting in Autoimmune disease, multisystem, infantile-onset, 2.",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2025-02-05T12:06:20.999574+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2025-02-05T11:49:56.414044+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826533, 23922166, 28855715; Phenotypes: Fuhrmann syndrome MIM#228930, Ulna and fibula, absence of, with severe limb deficiency MIM#276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2025-02-05T11:22:39.371463+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15060842, 15911806, 15455397, 16534117, 21089229, 32790646; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II MIM#201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNK1",
"entity_type": "gene"
},
{
"created": "2025-02-05T11:09:29.437766+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26012578, 38318947; Phenotypes: Intellectual developmental disorder, X-linked syndromic 14 MIM#300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2025-02-05T10:52:56.412058+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 39762237; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2025-02-05T10:51:19.218482+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2025-02-05T10:49:09.515325+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2025-02-05T10:18:06.280678+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2025-02-05T10:12:20.761823+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30853973; Phenotypes: Intellectual developmental disorder, autosomal recessive 13 MIM#613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2025-02-05T09:55:43.917934+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MIM#617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2025-02-04T21:18:41.400515+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 21739589, 20080219, 29310717, 20802478, 22228761; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2025-02-04T21:04:30.555226+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 14679583, 22122778, 21664999, 8458232, 28306229; Phenotypes: Brittle cornea syndrome 2, MIM#614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-02-04T20:45:00.823946+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 35844281, 18420150; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKRA",
"entity_type": "gene"
},
{
"created": "2025-02-04T19:08:36.697774+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGT1A1 as ready",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T19:08:36.682857+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugt1a1 has been classified as Green List (High Evidence).",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:49:19.785313+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome, type I, 218800 (3) to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:49:06.129317+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UGT1A1 were set to ",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:48:41.127828+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR1 as ready",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:48:41.112820+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Green List (High Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:48:37.003398+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome, 243800 (3) to Johanson-Blizzard syndrome MIM#243800",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:48:25.921595+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR1 were set to ",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:48:05.882297+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM37 as ready",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:48:05.869350+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim37 has been classified as Green List (High Evidence).",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:48:02.808843+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM37 were changed from Mulibrey nanism, 253250 (3) to Mulibrey nanism MIM#253250",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:47:50.441022+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM37 were set to ",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:47:16.037295+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM1 as ready",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:47:16.024641+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm1 has been classified as Green List (High Evidence).",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:47:12.127853+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 (3) to Ichthyosis, congenital, autosomal recessive 1, MIM#242300",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:47:00.140760+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM1 were set to ",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:46:30.764448+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDRD7 as ready",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:46:30.746565+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdrd7 has been classified as Green List (High Evidence).",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:46:26.952309+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TDRD7 were changed from Cataract 36, 613887 (3) to Cataract 36 MIM#613887",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:46:12.642227+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TDRD7 were set to ",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:45:49.498649+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN2 as ready",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:45:49.485617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn2 has been classified as Green List (High Evidence).",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:45:45.677808+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:45:35.826092+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN2 were set to ",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:44:07.367297+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCD as ready",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:44:07.329729+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Green List (High Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:44:03.903511+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:43:52.090584+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCD were set to ",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:43:09.964092+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STUB1 as ready",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:43:09.941349+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stub1 has been classified as Green List (High Evidence).",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:43:06.174421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768 (3) to Spinocerebellar ataxia, autosomal recessive 16 MIM#615768",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:42:50.122797+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STUB1 were set to ",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:42:31.878526+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STUB1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:42:23.243411+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:41:44.376457+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX14 as ready",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:41:44.362914+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Green List (High Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:41:40.604415+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNX14 were changed from Spinocerebellar ataxia, autosomal recessive 20, 616354 (3) to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:41:25.285548+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNX14 were set to ",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:40:51.878361+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A7 as ready",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:40:51.865191+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:40:48.337260+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A7 were changed from Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:40:36.829246+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC5A7 were set to ",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:40:12.245936+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A14 as ready",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:40:12.236483+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a14 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:40:08.931727+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A14 were changed from Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive to Hypermanganesaemia with dystonia 2, MIM# 617013",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:39:55.292840+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC39A14 were set to ",
"entity_name": "SLC39A14",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:39:29.955543+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A3 as ready",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:39:29.946633+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:39:26.176889+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures (MIM615553) to Arthrogryposis, impaired intellectual development, and seizures MIM#615553",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:38:47.832823+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERAC1 as ready",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:38:47.821588+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Green List (High Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:38:44.483675+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:38:32.048582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERAC1 were set to ",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:37:58.648028+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARF2 as ready",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:37:58.626168+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarf2 has been classified as Green List (High Evidence).",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:37:55.238220+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCARF2 were changed from Van den Ende-Gupta syndrome, 600920 (3) to Van den Ende-Gupta syndrome, MIM#600920",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:37:44.212879+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCARF2 were set to ",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:37:08.919746+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAR1B as ready",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:37:08.906827+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sar1b has been classified as Green List (High Evidence).",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:37:05.527184+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAR1B were changed from Chylomicron retention disease, 246700 (3) to Chylomicron retention disease MIM#246700",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:36:54.388979+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAR1B were set to ",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:36:31.159036+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1 as ready",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:36:31.147560+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1 has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:36:27.620758+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1 were changed from Cone-rod dystrophy 13, 608194 (3) to Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:36:16.749014+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGRIP1 were set to ",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:35:54.457505+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTTN as ready",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:35:54.445152+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rttn has been classified as Green List (High Evidence).",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2025-02-04T18:35:51.544659+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTTN were changed from Polymicrogyria with seizures, 614833 (3) to Microcephaly, short stature, and polymicrogyria with seizures MIM#614833",
"entity_name": "RTTN",
"entity_type": "gene"
}
]
}