{"count":220460,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=74","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=72","results":[{"created":"2025-12-30T15:17:46.256421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3869","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PBXIP1 as ready","entity_name":"PBXIP1","entity_type":"gene"},{"created":"2025-12-30T15:17:46.244298+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3869","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbxip1 has been classified as Red List (Low Evidence).","entity_name":"PBXIP1","entity_type":"gene"},{"created":"2025-12-30T15:17:32.070971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3869","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PBXIP1 was added\ngene: PBXIP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PBXIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PBXIP1 were set to 39786576; 38947059\nPhenotypes for gene: PBXIP1 were set to non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related\nReview for gene: PBXIP1 was set to RED\nAdded comment: One individual from a consanguineous family with a homozygous nonsense PBXIP1 variant (c.1722G>A; p.Trp574*) causing bilateral cochlear aplasia and congenital profound sensorineural hearing loss. Functional studies using iPSC‑derived organoids with knockout and knock‑in of the nonsense allele recapitulate the human phenotype, supporting a loss‑of‑function disease mechanism. \nSources: Literature","entity_name":"PBXIP1","entity_type":"gene"},{"created":"2025-12-30T15:02:11.983894+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.382","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NUBP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-30T15:02:11.748913+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.382","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUBP2 was added\ngene: NUBP2 was added to Microcephaly. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUBP2 were set to 39867373\nPhenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T15:01:31.730677+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.529","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NUBP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-30T15:01:31.335725+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.529","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUBP2 was added\ngene: NUBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUBP2 were set to 39867373\nPhenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T15:00:48.528818+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.493","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NUBP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-30T15:00:48.027348+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.493","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUBP2 was added\ngene: NUBP2 was added to Fetal anomalies. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUBP2 were set to 39867373\nPhenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T15:00:41.368404+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NUBP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-30T15:00:41.163630+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUBP2 was added\ngene: NUBP2 was added to Arthrogryposis. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUBP2 were set to 39867373\nPhenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T14:59:25.176606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3868","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUBP2 as ready","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T14:59:25.166725+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3868","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nubp2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T14:59:17.605443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3868","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NUBP2 as Amber List (moderate evidence)","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T14:59:17.595418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3868","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nubp2 has been classified as Amber List (Moderate Evidence).","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T14:59:02.255235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3867","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NUBP2 was added\ngene: NUBP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUBP2 were set to 39867373\nPhenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092\nReview for gene: NUBP2 was set to AMBER\nAdded comment: PMID 39867373 reports 2 individuals from 2 unrelated families with biallelic missense variants in NUBP2 presenting with congenital primary microcephaly, intrauterine growth restriction, severe joint contractures and facial dysmorphism. A forebrain‑specific conditional Nubp2 knockout mouse recapitulates the severe microcephaly, and rescue assays show patient alleles fail to restore growth, supporting a loss‑of‑function mechanism.\r\n\r\nPreprint. \nSources: Literature","entity_name":"NUBP2","entity_type":"gene"},{"created":"2025-12-30T14:49:08.457990+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IQUB as ready","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:49:08.450326+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqub has been classified as Amber List (Moderate Evidence).","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:48:56.404014+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene IQUB from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-30T14:48:56.331909+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IQUB was added\ngene: IQUB was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: IQUB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQUB were set to 39849482; 36355624\nPhenotypes for gene: IQUB were set to Spermatogenic failure, MONDO:0004983, IQUB-related","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:48:41.675519+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IQUB as ready","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:48:41.654973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqub has been classified as Amber List (Moderate Evidence).","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:48:32.150284+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IQUB as Amber List (moderate evidence)","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:48:32.140243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqub has been classified as Amber List (Moderate Evidence).","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:48:15.447021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3865","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IQUB was added\ngene: IQUB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IQUB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQUB were set to 39849482; 36355624\nPhenotypes for gene: IQUB were set to Spermatogenic failure, MONDO:0004983, IQUB-related\nReview for gene: IQUB was set to AMBER\nAdded comment: PMID 36355624 and PMID 39849482 report 2 unrelated families with autosomal recessive loss‑of‑function variants in IQUB (c.942T>G p.Tyr314* and c.842del p.L281Pfs*28) causing male infertility due to severe asthenospermia/astenozoospermia with normal sperm morphology. Functional studies include mouse knockout/knock‑in models that recapitulate the infertility phenotype. \nSources: Literature","entity_name":"IQUB","entity_type":"gene"},{"created":"2025-12-30T14:39:05.682009+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCC2 as ready","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:39:05.642259+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcc2 has been classified as Amber List (Moderate Evidence).","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:38:46.677705+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene GCC2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-30T14:38:46.501800+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCC2 was added\ngene: GCC2 was added to Defects of intrinsic and innate immunity. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: GCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCC2 were set to 39813120\nPhenotypes for gene: GCC2 were set to Inborn error of immunity, MONDO:0003778, GCC2-related","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:37:52.444810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCC2 as ready","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:37:52.433891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcc2 has been classified as Amber List (Moderate Evidence).","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:37:43.994837+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCC2 as Amber List (moderate evidence)","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:37:43.984957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcc2 has been classified as Amber List (Moderate Evidence).","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:24:58.956164+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3863","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GCC2 was added\ngene: GCC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCC2 were set to 39813120\nPhenotypes for gene: GCC2 were set to Inborn error of immunity, MONDO:0003778, GCC2-related\nReview for gene: GCC2 was set to AMBER\nAdded comment: PMID 39813120 reports two individuals from two families with compound het missense GCC2 variants presenting with natural killer cell deficiency, recurrent viral infections, and impaired lytic granule convergence. Functional assays show markedly reduced NK cell cytotoxicity and defective granule convergence, which is rescued by wild‑type GCC2 but not by the E1608G mutant. \nSources: Literature","entity_name":"GCC2","entity_type":"gene"},{"created":"2025-12-30T14:22:20.916441+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXD3 as ready","entity_name":"EXD3","entity_type":"gene"},{"created":"2025-12-30T14:22:20.909217+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exd3 has been classified as Red List (Low Evidence).","entity_name":"EXD3","entity_type":"gene"},{"created":"2025-12-30T14:22:11.162033+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene EXD3 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-30T14:22:10.950927+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXD3 was added\ngene: EXD3 was added to Cataract. Sources: Expert Review Red,Literature\nMode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EXD3 were set to 37396523\nPhenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related","entity_name":"EXD3","entity_type":"gene"},{"created":"2025-12-30T14:21:20.531946+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3862","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXD3 as ready","entity_name":"EXD3","entity_type":"gene"},{"created":"2025-12-30T14:21:20.524600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3862","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exd3 has been classified as Red List (Low Evidence).","entity_name":"EXD3","entity_type":"gene"},{"created":"2025-12-30T14:21:07.268924+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3862","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXD3 was added\ngene: EXD3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EXD3 were set to 37396523\nPhenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related\nReview for gene: EXD3 was set to RED\nAdded comment: PMID 37396523 reports 34 individuals from 3 unrelated families where a heterozygous missense variant c.112C>T (p.Arg38Trp) segregated in an autosomal dominant manner, presenting with bilateral posterior polar congenital cataract. No functional data. Variant is present in gnomAD in 13 individuals. Haplotype analysis suggested it had arisen independently. \nSources: Literature","entity_name":"EXD3","entity_type":"gene"},{"created":"2025-12-30T14:17:12.123954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3861","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EP400: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EP400","entity_type":"gene"},{"created":"2025-12-29T16:00:56.266770+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STXBP2 as ready","entity_name":"STXBP2","entity_type":"gene"},{"created":"2025-12-29T16:00:56.257157+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stxbp2 has been classified as Red List (Low Evidence).","entity_name":"STXBP2","entity_type":"gene"},{"created":"2025-12-29T16:00:53.418326+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP2 were changed from  to Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101","entity_name":"STXBP2","entity_type":"gene"},{"created":"2025-12-29T16:00:24.206566+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STXBP2","entity_type":"gene"},{"created":"2025-12-29T15:59:54.550299+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RET as ready","entity_name":"RET","entity_type":"gene"},{"created":"2025-12-29T15:59:54.542663+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ret has been classified as Red List (Low Evidence).","entity_name":"RET","entity_type":"gene"},{"created":"2025-12-29T15:59:50.787574+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RET","entity_type":"gene"},{"created":"2025-12-29T15:59:15.959780+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCF1 as ready","entity_name":"NCF1","entity_type":"gene"},{"created":"2025-12-29T15:59:15.947809+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncf1 has been classified as Red List (Low Evidence).","entity_name":"NCF1","entity_type":"gene"},{"created":"2025-12-29T15:59:13.741745+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCF1 were changed from  to Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700","entity_name":"NCF1","entity_type":"gene"},{"created":"2025-12-29T15:58:48.035342+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCF1","entity_type":"gene"},{"created":"2025-12-29T15:58:14.869383+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRBA as ready","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-12-29T15:58:14.859811+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrba has been classified as Red List (Low Evidence).","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-12-29T15:58:06.789462+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRBA were changed from  to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-12-29T15:57:36.489362+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-12-29T15:56:00.186261+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG4 as ready","entity_name":"LIG4","entity_type":"gene"},{"created":"2025-12-29T15:56:00.178692+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig4 has been classified as Red List (Low Evidence).","entity_name":"LIG4","entity_type":"gene"},{"created":"2025-12-29T15:55:17.455233+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2025-12-29T15:52:39.955324+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS4A as ready","entity_name":"VPS4A","entity_type":"gene"},{"created":"2025-12-29T15:52:39.947501+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps4a has been classified as Green List (High Evidence).","entity_name":"VPS4A","entity_type":"gene"},{"created":"2025-12-29T15:51:57.277906+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.521","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene VPS4A from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-29T15:51:57.125535+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.521","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS4A was added\ngene: VPS4A was added to Cataract. Sources: Expert Review Green,Literature\nMode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VPS4A were set to PMID: 33186543; 33186545\nPhenotypes for gene: VPS4A were set to CIMDAG syndrome MIM# 619273\nMode of pathogenicity for gene: VPS4A was set to Other","entity_name":"VPS4A","entity_type":"gene"},{"created":"2025-12-29T15:01:21.242542+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LETM1 as ready","entity_name":"LETM1","entity_type":"gene"},{"created":"2025-12-29T15:01:21.228013+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: letm1 has been classified as Green List (High Evidence).","entity_name":"LETM1","entity_type":"gene"},{"created":"2025-12-29T15:01:11.735449+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LETM1: Changed publications: 36055214","entity_name":"LETM1","entity_type":"gene"},{"created":"2025-12-29T15:01:01.878784+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: LETM1: The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%). Other features included bilateral cataracts (42%), cardiomyopathy (36%), and diabetes (27%).","entity_name":"LETM1","entity_type":"gene"},{"created":"2025-12-29T15:00:43.135452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3861","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LETM1: Changed publications: 36055214","entity_name":"LETM1","entity_type":"gene"},{"created":"2025-12-29T15:00:28.026204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3861","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: LETM1: The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%). Other features included bilateral cataracts (42%), cardiomyopathy (36%), and diabetes (27%).","entity_name":"LETM1","entity_type":"gene"},{"created":"2025-12-29T15:00:19.112394+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene LETM1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-29T15:00:18.961033+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LETM1 was added\ngene: LETM1 was added to Cataract. Sources: Expert Review Green,Literature\nMode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LETM1 were set to 36055214\nPhenotypes for gene: LETM1 were set to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089","entity_name":"LETM1","entity_type":"gene"},{"created":"2025-12-29T14:55:55.933222+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.519","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHCR7 as Green List (high evidence)","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-12-29T14:55:55.923658+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.519","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-12-29T14:55:31.002820+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cataracts rarely reported in SLO.; to: Cataracts in around 20%.","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-12-29T14:55:21.447418+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHCR7: Changed rating: GREEN","entity_name":"DHCR7","entity_type":"gene"},{"created":"2025-12-29T14:52:15.637021+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK9 as ready","entity_name":"CDK9","entity_type":"gene"},{"created":"2025-12-29T14:52:15.627176+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk9 has been classified as Green List (High Evidence).","entity_name":"CDK9","entity_type":"gene"},{"created":"2025-12-29T14:52:07.134904+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK9","entity_type":"gene"},{"created":"2025-12-29T14:51:25.188535+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene CDK9 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-29T14:51:25.030797+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDK9 was added\ngene: CDK9 was added to Cataract. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK9 were set to 40954203; 33640901; 30237576; 26633546\nPhenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy","entity_name":"CDK9","entity_type":"gene"},{"created":"2025-12-29T14:48:15.556510+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.517","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WRN as ready","entity_name":"WRN","entity_type":"gene"},{"created":"2025-12-29T14:48:15.546174+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.517","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wrn has been classified as Green List (High Evidence).","entity_name":"WRN","entity_type":"gene"},{"created":"2025-12-29T14:48:12.574641+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.517","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WRN were changed from  to Werner syndrome, MIM# 277700; MONDO:0010196","entity_name":"WRN","entity_type":"gene"},{"created":"2025-12-29T14:47:46.146774+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.516","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WRN were set to ","entity_name":"WRN","entity_type":"gene"},{"created":"2025-12-24T20:53:55.124925+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.515","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WRN","entity_type":"gene"},{"created":"2025-12-24T18:14:08.580336+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene WRN from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-24T18:12:35.322963+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VSX2 as ready","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-12-24T18:12:35.312814+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vsx2 has been classified as Green List (High Evidence).","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-12-24T18:12:24.189987+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VSX2 were changed from  to Microphthalmia with coloboma 3, MIM# 610092","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-12-24T18:11:59.109603+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VSX2 were set to ","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-12-24T18:11:37.500311+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-12-24T18:11:15.640861+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported. Cataract as part of a more complex eye phenotype.","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-12-24T18:11:03.022493+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: VSX2: Changed phenotypes: Microphthalmia with coloboma 3, MIM# 610092","entity_name":"VSX2","entity_type":"gene"},{"created":"2025-12-24T18:10:45.980478+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene VSX2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-24T18:09:38.572587+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VIM as ready","entity_name":"VIM","entity_type":"gene"},{"created":"2025-12-24T18:09:38.562621+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vim has been classified as Green List (High Evidence).","entity_name":"VIM","entity_type":"gene"},{"created":"2025-12-24T18:09:36.505756+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VIM were changed from  to Cataract 30, pulverulent, MIM# 116300","entity_name":"VIM","entity_type":"gene"},{"created":"2025-12-24T18:09:14.941043+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.508","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VIM were set to ","entity_name":"VIM","entity_type":"gene"},{"created":"2025-12-24T18:08:54.309887+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VIM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VIM","entity_type":"gene"}]}