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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=24",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=22",
"results": [
{
"created": "2026-03-03T11:53:11.926132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4474",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: RHOXF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28171600; Phenotypes: Spermatogenic failure, MONDO:0004983, RHOXF1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RHOXF1",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:26:21.862483+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.236",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PRDM15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T11:25:41.678734+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.417",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene PRDM15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T11:25:41.419772+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.417",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRDM15 was added\ngene: PRDM15 was added to Microcephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM15 were set to 31950080\nPhenotypes for gene: PRDM15 were set to Galloway-Mowat syndrome MONDO:0009627, PRDM15-related",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:25:01.178344+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.24",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PRDM15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T11:24:20.553062+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.542",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PRDM15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T11:24:17.245714+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.57",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Copied gene PRDM15 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T11:24:17.079609+11:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "1.57",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: PRDM15 was added\ngene: PRDM15 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Green,Literature\nMode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM15 were set to 31950080\nPhenotypes for gene: PRDM15 were set to Galloway-Mowat syndrome MONDO:0009627, PRDM15-related",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:22:27.427255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4474",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM15 were changed from Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related; Galloway-Mowat syndrome MONDO:0009627, PRDM15-related to Galloway-Mowat syndrome MONDO:0009627, PRDM15-related",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:22:05.449531+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4473",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRDM15: Rating: GREEN; Mode of pathogenicity: None; Publications: 31950080, 33593823; Phenotypes: Galloway-Mowat syndrome MONDO:0009627, PRDM15-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:17:23.417379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4473",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:10:16.238562+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4473",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: PMID: 33593823- Reports the same families as PMID:31950080. 4 families homozygous for C844Y who had syndromic SRNS which this paper described as Galloway-Mowat syndrome, and another 2 homozygous for M154K or E190K who had isolated SRNS. Paper suggests the more severe phenotype associated with C844Y is because it affects a Cys residue in a zinc finger domain and was shown to destabilize the protein while also interfering with transcriptional activity while the other 2 missense in the SET domain decrease protein stability but do not affect transcriptional activity. In knock-out cell lines pronephric development was disrupted and could be rescued by WT but not by any of the 3 patient missense variants. \r\n\r\nBorderline amber/green; to: PMID: 33593823- Reports the same families as PMID:31950080. 4 families homozygous for C844Y who had syndromic SRNS which this paper described as Galloway-Mowat syndrome, and another 2 homozygous for M154K or E190K who had isolated SRNS. Paper suggests the more severe phenotype associated with C844Y is because it affects a Cys residue in a zinc finger domain and was shown to destabilize the protein while also interfering with transcriptional activity while the other 2 missense in the SET domain decrease protein stability but do not affect transcriptional activity. In knock-out cell lines pronephric development was disrupted and could be rescued by WT but not by any of the 3 patient missense variants. \r\n\r\nBorderline amber/green, likely 1 spectrum of disease",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:09:11.907767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4473",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM15 were changed from Multiple congenital anomalies MONDO:0019042, PRDM15-related to Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related; Galloway-Mowat syndrome MONDO:0009627, PRDM15-related",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:09:04.426800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4472",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PRDM15 as Green List (high evidence)",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:09:04.416980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4472",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: prdm15 has been classified as Green List (High Evidence).",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:08:11.257894+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.381",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: ATP11A were set to 40185629",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:07:43.815275+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.380",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from Focal Epilepsy MONDO:0005384 to Focal epilepsy MONDO:0005384, ATP11A; Leukodystrophy, hypomyelinating, 24 MIM#619851",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:07:14.739335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.379",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: ATP11A as Green List (high evidence)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:07:14.730988+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.379",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: atp11a has been classified as Green List (High Evidence).",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2026-03-03T11:06:39.421516+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.378",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34403372, 39432785, 40185629; Phenotypes: Focal epilepsy MONDO:0005384, ATP11A, Leukodystrophy, hypomyelinating, 24 MIM#619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2026-03-03T10:01:20.692748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4471",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PRDM15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33593823, 31950080; Phenotypes: Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related, Galloway-Mowat syndrome MONDO:0009627, PRDM15-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRDM15",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:20:49.828328+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.683",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:19:58.554298+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.682",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Green List (high evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:19:58.544323+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.682",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Green List (High Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:19:35.124380+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.416",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:19:12.201059+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.415",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Green List (high evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:19:12.193915+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.415",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Green List (High Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:17:42.940379+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.414",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PPP1R15B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T09:17:02.273719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.681",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "Added reviews for gene PPP1R15B from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-03T09:11:24.026661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4471",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:11:07.045666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4470",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: PPP1R15B as Green List (high evidence)",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:11:07.035492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4470",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: ppp1r15b has been classified as Green List (High Evidence).",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-03T09:10:46.348112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4469",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: PPP1R15B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38159565, 26159176, 26307080, 27640355, 40568171; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM#616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:15:07.094192+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.32",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP2 were set to 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:14:46.101458+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.32",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TRAF3IP2 as Green List (high evidence)",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:14:46.082634+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.32",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: traf3ip2 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:14:26.391883+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.31",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:14:07.448077+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.31",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TRAF3IP2 as Green List (high evidence)",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:14:07.432114+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.31",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: traf3ip2 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:13:48.615948+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.31",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TRAF3IP2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-02T22:12:17.546657+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.30",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TRAF3IP2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-02T22:10:26.993558+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.38",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Copied gene TRAF3IP2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-02T22:10:26.783355+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.38",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TRAF3IP2 was added\ngene: TRAF3IP2 was added to Disorders of immune dysregulation. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351; 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246\nPhenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8, MIM# 615527",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:09:08.514312+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.38",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Copied gene TRAF3IP2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-02T22:09:08.238731+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.38",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TRAF3IP2 was added\ngene: TRAF3IP2 was added to Disorders of immune dysregulation. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351; 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246\nPhenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8, MIM# 615527",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:07:50.270802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4469",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:07:15.657668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4468",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TRAF3IP2 as Green List (high evidence)",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:07:15.647615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4468",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: traf3ip2 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T22:06:52.757636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4467",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34289170, 33825088, 33359359, 32350852, 31292894, 30237576, 28640246; Phenotypes: candidiasis, familial, 8, MONDO:0014230, ?Candidiasis, familial, 8 - MIM#615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP2",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:55:37.861418+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.145",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TRAC were changed from Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387; TCR-alpha-beta-positive T-cell deficiency, MONDO:0014160",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:55:10.690770+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAC were set to 21206088",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:54:52.082132+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TRAC as Green List (high evidence)",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:54:52.058494+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.144",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: trac has been classified as Green List (High Evidence).",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:53:09.484330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4467",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TRAC were changed from Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387; TCR-alpha-beta-positive T-cell deficiency, MONDO:0014160",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:52:43.410618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4466",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TRAC were set to 21206088",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:52:20.033751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4465",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: TRAC as Green List (high evidence)",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:52:20.023118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4465",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: trac has been classified as Green List (High Evidence).",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:52:18.201722+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.143",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TRAC from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-02T21:50:30.200321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4464",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TRAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 41103553, 33909184; Phenotypes: TCR-alpha-beta-positive T-cell deficiency, MONDO:0014160, Immunodeficiency 7, TCR-alpha/beta deficient 615387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:36:14.662167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4464",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TPCN2 were changed from [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267 to albinism, TPCN2-related - MONDO:0043209",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:35:03.128356+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.15",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: TPCN2 were changed from Hypopigmentation of the skin MONDO:0019290 to albinism, TPCN2-related - MONDO:0043209",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:34:31.910757+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.14",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TPCN2 were set to 36641477; 3980994",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:34:14.440662+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.14",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: TPCN2 were set to 36641477",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2026-03-02T21:32:49.565179+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.13",
"user_name": "Krithika Murali",
"item_type": "panel",
"text": "Added reviews for gene TPCN2 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-02T21:31:20.157463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4463",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: TPCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 39809949, 36641477; Phenotypes: albinism, MONDO:0043209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2026-03-02T13:07:41.604495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4463",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: EXOSC10: Rating: AMBER; Mode of pathogenicity: None; Publications: 41609100; Phenotypes: premature ovarian insufficiency MONDO:0019852; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2026-03-02T12:48:59.583897+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.43",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: ERBB4: Changed publications: 31432357, 32638105, 33414559, 35873773, 38291418; Changed phenotypes: amyotrophic lateral sclerosis type 19, MONDO:0014223",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2026-03-02T12:48:44.405169+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.43",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Update to GDA and publications \r\n\r\nGREEN association for ALS - 6 other unrelated individuals reported with ALS and heterozygous variants in ERBB4 (PMID: 31432357, 32638105, 33414559, 35873773, 38291418)\r\n\r\nRED for Hirschsprung - only one affected individual identified (PMID: 29483666)\r\nRED for idiopathic hypogonadotropic hypogonadism (IHH) - only one affected individual identified (PMID: 36123965); to: Update to GDA and publications \r\n\r\nGREEN association for ALS - 6 other unrelated individuals reported with ALS and heterozygous variants in ERBB4 (PMID: 31432357, 32638105, 33414559, 35873773, 38291418)\r\n",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2026-03-02T12:48:12.159715+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.43",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "panel",
"text": "Added reviews for gene ERBB4 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-03-02T12:46:42.866767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4463",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ERBB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 38291418, 36123965, 35873773, 33414559, 32638105, 31432357, 29483666; Phenotypes: amyotrophic lateral sclerosis type 19, MONDO:0014223, Hirschsprung disease MONDO:0018309, idiopathic hypogonadotropic hypogonadism MONDO:0018555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:29:06.609283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:28:50.973205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:28:34.350041+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:28:04.915630+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:27:48.106285+11:00",
"panel_name": "Severe Combined Immunodeficiency",
"panel_id": 235,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:27:18.938546+11:00",
"panel_name": "Severe Combined Immunodeficiency",
"panel_id": 235,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:26:50.540477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230,DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:26:27.843826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DMRT2: Changed rating: GREEN",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:26:18.353111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:26:00.960656+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:25:29.007538+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:25:14.167996+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:24:41.563986+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:23:07.199625+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMRT2 were changed from skeletal dysplasia MONDO:0018230; DMRT2-related to Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-03-02T10:22:26.542082+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMRT2",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:42:33.632219+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.606",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2B3 as Green List (high evidence)",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:42:33.619909+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.606",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b3 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:33:22.935338+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ATP2B3 were set to ",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:33:04.981164+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2B3 as Green List (high evidence)",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:33:04.974062+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b3 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:31:24.374454+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.188",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added reviews for gene ATP2B3 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-28T20:26:31.142844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.680",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2B3 as Green List (high evidence)",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:26:31.135927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.680",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2b3 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:25:51.370977+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.679",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ATP2B3: Changed rating: GREEN",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:25:37.837232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.679",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).; to: At least 3 cases reported with ID/developmental delay without other variants detected\r\nPMIDs 25953895, 27653636, 28807751, 36207321 and 37821930 report 11 patients from 8 unrelated families with hemizygous ATP2B3 missense variants causing early‑onset cerebellar ataxia, hypotonia, developmental delay and sometimes seizures or dystonia. 2 of the patients had alternate diagnoses in PMM2 & LAMA1. Functional studies (HeLa Ca2+ assays, yeast complementation, homology modelling) demonstrate loss‑of‑function or altered pump activity. Single reports also link ATP2B3 to autism (PMID 28720891) and fetal akinesia (PMID 31680123).",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:22:23.914012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.679",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ATP2B3: Changed rating: AMBER",
"entity_name": "ATP2B3",
"entity_type": "gene"
},
{
"created": "2026-02-28T20:20:02.318237+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.187",
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{
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{
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{
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]
}