{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=24","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"ATP2B3","entity_type":"gene"},{"created":"2026-02-28T20:19:38.755554+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.605","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene ATP2B3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-28T20:18:59.403776+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.679","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene ATP2B3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-28T20:18:46.034624+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.186","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"ATP2B3","entity_type":"gene"}]}