{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=34","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=32","results":[{"created":"2026-02-11T20:36:32.041100+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tenm3 has been classified as Amber List (Moderate Evidence).","entity_name":"TENM3","entity_type":"gene"},{"created":"2026-02-11T20:35:59.421735+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.621","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TENM3 was added\ngene: TENM3 was added to Cataract. Sources: Literature\nMode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TENM3 were set to 36911040; 32799327\nPhenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15, MIM#\t615145\nReview for gene: TENM3 was set to AMBER\nAdded comment: PMID 32799327 reports a family with a homozygous nonsense TENM3 variant causing congenital cataract, microphthalmia and coloboma. PMID 36911040 reports 2 unrelated families with biallelic TENM3 variants; family 1 has congenital cataract, microphthalmia, microcephaly and developmental delay, family 2 has esotropia with speech and motor delay. \nSources: Literature","entity_name":"TENM3","entity_type":"gene"},{"created":"2026-02-11T20:31:52.106803+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIX6 as ready","entity_name":"SIX6","entity_type":"gene"},{"created":"2026-02-11T20:31:52.095922+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six6 has been classified as Amber List (Moderate Evidence).","entity_name":"SIX6","entity_type":"gene"},{"created":"2026-02-11T20:31:47.901495+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SIX6 as Amber List (moderate evidence)","entity_name":"SIX6","entity_type":"gene"},{"created":"2026-02-11T20:31:47.873944+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six6 has been classified as Amber List (Moderate Evidence).","entity_name":"SIX6","entity_type":"gene"},{"created":"2026-02-11T20:31:21.109538+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.619","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SIX6 was added\ngene: SIX6 was added to Cataract. Sources: Literature\nMode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIX6 were set to 35693420\nPhenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, MIM#\t212550\nReview for gene: SIX6 was set to AMBER\nAdded comment: PMID 35693420 reports four individuals from two unrelated consanguineous families with biallelic SIX6 variants (c.547G>C p.Asp183His missense; c.-227_572+235del1034 exon‑1 deletion) presenting with congenital cataract, microcornea, corneal opacification and variable iris coloboma or microphthalmia. The variants segregate with disease, are absent from population databases, and in silico structural modelling predicts loss‑of‑function. \nSources: Literature","entity_name":"SIX6","entity_type":"gene"},{"created":"2026-02-11T20:24:42.228935+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFRP as ready","entity_name":"MFRP","entity_type":"gene"},{"created":"2026-02-11T20:24:42.220793+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfrp has been classified as Amber List (Moderate Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2026-02-11T20:24:37.512199+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MFRP as Amber List (moderate evidence)","entity_name":"MFRP","entity_type":"gene"},{"created":"2026-02-11T20:24:37.502011+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfrp has been classified as Amber List (Moderate Evidence).","entity_name":"MFRP","entity_type":"gene"},{"created":"2026-02-11T20:24:09.857996+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFRP was added\ngene: MFRP was added to Cataract. Sources: Literature\nMode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFRP were set to 36605040\nPhenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM#\t611040\nReview for gene: MFRP was set to AMBER\nAdded comment: PMID 36605040 reports 2 individuals from 2 unrelated families with biallelic canonical splice-site MFRP variants presenting with nanophthalmos, high hyperopia, retinitis pigmentosa, and early-onset cataract (nuclear sclerotic). \nSources: Literature","entity_name":"MFRP","entity_type":"gene"},{"created":"2026-02-11T20:21:34.435285+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAFA as ready","entity_name":"MAFA","entity_type":"gene"},{"created":"2026-02-11T20:21:34.425353+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mafa has been classified as Amber List (Moderate Evidence).","entity_name":"MAFA","entity_type":"gene"},{"created":"2026-02-11T20:21:29.598931+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAFA as Amber List (moderate evidence)","entity_name":"MAFA","entity_type":"gene"},{"created":"2026-02-11T20:21:29.589323+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mafa has been classified as Amber List (Moderate Evidence).","entity_name":"MAFA","entity_type":"gene"},{"created":"2026-02-11T20:21:01.548444+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.615","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAFA was added\ngene: MAFA was added to Cataract. Sources: Literature\nMode of inheritance for gene: MAFA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAFA were set to 29339498\nPhenotypes for gene: MAFA were set to Insulinomatosis and diabetes mellitus, MIM#\t147630\nReview for gene: MAFA was set to AMBER\nAdded comment: PMID 29339498 reports a heterozygous MAFA p.Ser64Phe gain‑of‑function missense variant in two unrelated families with autosomal dominant insulinomatosis/diabetes and in the index family four individuals with congenital cataract (±glaucoma). \nSources: Literature","entity_name":"MAFA","entity_type":"gene"},{"created":"2026-02-11T19:44:12.384301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4281","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LRPAP1 as ready","entity_name":"LRPAP1","entity_type":"gene"},{"created":"2026-02-11T19:44:12.373780+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4281","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lrpap1 has been classified as Green List (High Evidence).","entity_name":"LRPAP1","entity_type":"gene"},{"created":"2026-02-11T19:41:30.571804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4281","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LRPAP1 as Green List (high evidence)","entity_name":"LRPAP1","entity_type":"gene"},{"created":"2026-02-11T19:41:30.564576+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4281","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lrpap1 has been classified as Green List (High Evidence).","entity_name":"LRPAP1","entity_type":"gene"},{"created":"2026-02-11T19:41:03.519479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4280","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LRPAP1 was added\ngene: LRPAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRPAP1 were set to 23830514; 25525168; 36261846; 39444998\nPhenotypes for gene: LRPAP1 were set to myopia 23, autosomal recessive MONDO:0014183\nReview for gene: LRPAP1 was set to GREEN\nAdded comment: At least 4 families reported with homozygous variants, and a supporting zebrafish model \nSources: Literature","entity_name":"LRPAP1","entity_type":"gene"},{"created":"2026-02-11T19:28:23.906759+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.79","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ACR from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-11T19:28:23.825425+11:00","panel_name":"Infertility and Recurrent Pregnancy Loss","panel_id":4455,"panel_version":"1.79","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACR was added\ngene: ACR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Red,Literature\nMode of inheritance for gene: ACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACR were set to 37004249\nPhenotypes for gene: ACR were set to spermatogenic failure MONDO:0004983","entity_name":"ACR","entity_type":"gene"},{"created":"2026-02-11T19:26:48.406495+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4279","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACR as ready","entity_name":"ACR","entity_type":"gene"},{"created":"2026-02-11T19:26:48.395937+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4279","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acr has been classified as Red List (Low Evidence).","entity_name":"ACR","entity_type":"gene"},{"created":"2026-02-11T19:26:23.789249+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4279","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACR was added\ngene: ACR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACR were set to 37004249\nPhenotypes for gene: ACR were set to spermatogenic failure MONDO:0004983\nReview for gene: ACR was set to RED\nAdded comment: A single consanguineous family reported with a homozygous stopgain variant (c.167G>A, p.Trp56*) and supporting in vitro assay. \nSources: Literature","entity_name":"ACR","entity_type":"gene"},{"created":"2026-02-11T09:32:30.525200+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.39","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-46303-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2026-02-11T09:32:30.332085+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"1.39","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-46303-Loss was added\nRegion: ISCA-46303-Loss was added to Differences of Sex Development. Sources: ClinGen\nMode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-46303-Loss were set to PMID: 24934569, 26663529, 19234473, 26152199, 30552336","entity_name":"ISCA-46303-Loss","entity_type":"region"},{"created":"2026-02-10T19:05:56.767036+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JAG1 as ready","entity_name":"JAG1","entity_type":"gene"},{"created":"2026-02-10T19:05:56.759559+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jag1 has been classified as Green List (High Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2026-02-10T19:05:52.032215+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JAG1 as Green List (high evidence)","entity_name":"JAG1","entity_type":"gene"},{"created":"2026-02-10T19:05:52.012382+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jag1 has been classified as Green List (High Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2026-02-10T19:05:23.078307+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAG1 was added\ngene: JAG1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: JAG1 were set to 40257159; 37337769; 32883240\nPhenotypes for gene: JAG1 were set to Alagille syndrome 1, MIM#\t118450\nReview for gene: JAG1 was set to GREEN\nAdded comment: Cataract is a recognised feature of the condition. \nSources: Literature","entity_name":"JAG1","entity_type":"gene"},{"created":"2026-02-10T14:08:08.370758+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC1H1 as ready","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2026-02-10T14:08:08.362180+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync1h1 has been classified as Amber List (Moderate Evidence).","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2026-02-10T13:56:35.657986+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DYNC1H1 as Amber List (moderate evidence)","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2026-02-10T13:56:35.650279+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync1h1 has been classified as Amber List (Moderate Evidence).","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2026-02-10T13:56:07.707332+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.611","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DYNC1H1 was added\ngene: DYNC1H1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DYNC1H1 were set to 27754416; 27331017\nPhenotypes for gene: DYNC1H1 were set to Cortical dysplasia, complex, with other brain malformations 13, MIM#\t614563\nReview for gene: DYNC1H1 was set to AMBER\nAdded comment: PMID 27331017 reports 1 individual with a de novo heterozygous missense DYNC1H1 variant (p.G3658E) presenting with severe malformation of cortical development and bilateral congenital cataract. PMID 27754416 reports a second individual with a de novo heterozygous missense DYNC1H1 variant (p.R2332C) presenting with congenital cataracts, polymicrogyria, developmental delay, gut dysmotility and sensory neuropathy. \nSources: Literature","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2026-02-10T13:54:02.089360+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CWC27 as ready","entity_name":"CWC27","entity_type":"gene"},{"created":"2026-02-10T13:54:02.075383+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cwc27 has been classified as Amber List (Moderate Evidence).","entity_name":"CWC27","entity_type":"gene"},{"created":"2026-02-10T13:53:58.091231+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CWC27 as Amber List (moderate evidence)","entity_name":"CWC27","entity_type":"gene"},{"created":"2026-02-10T13:53:58.083928+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cwc27 has been classified as Amber List (Moderate Evidence).","entity_name":"CWC27","entity_type":"gene"},{"created":"2026-02-10T13:53:31.570355+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.609","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CWC27 was added\ngene: CWC27 was added to Cataract. Sources: Literature\nMode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CWC27 were set to 38840272; 31481716\nPhenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, MIM#\t250410\nReview for gene: CWC27 was set to AMBER\nAdded comment: PMIDs 31481716 and 38840272 report 2 individuals from 2 unrelated families with biallelic loss-of-function CWC27 variants presenting with congenital cataract (often accompanied by retinal dystrophy, skeletal anomalies, short stature, intellectual disability, and hypergonadotropic hypogonadism). \nSources: Literature","entity_name":"CWC27","entity_type":"gene"},{"created":"2026-02-10T13:51:49.152888+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.608","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARCN1 as ready","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-02-10T13:51:49.145976+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arcn1 has been classified as Amber List (Moderate Evidence).","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-02-10T13:51:45.220924+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.608","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARCN1 as Amber List (moderate evidence)","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-02-10T13:51:45.201242+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arcn1 has been classified as Amber List (Moderate Evidence).","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-02-10T13:51:17.303280+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.607","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARCN1 was added\ngene: ARCN1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ARCN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARCN1 were set to 35300924\nPhenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)\nReview for gene: ARCN1 was set to AMBER\nAdded comment: PMID 35300924 reports 4 individuals from 2 unrelated families with biallelic loss-of-function ARCN1 variants presenting with cataract (onset infancy to early adolescence) as part of ARCN1‑related syndrome. \nSources: Literature","entity_name":"ARCN1","entity_type":"gene"},{"created":"2026-02-10T13:47:03.551955+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB11 as ready","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:47:03.544152+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb11 has been classified as Green List (High Evidence).","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:45:48.140166+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZBTB11 were set to 29893856","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:45:14.430691+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.; to: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.\r\n\r\nRegression is part of the phenotype.","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:44:41.957728+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene ZBTB11 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-10T13:44:41.718245+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZBTB11 was added\ngene: ZBTB11 was added to Regression. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB11 were set to 29893856\nPhenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, OMIM #618383","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:43:16.817978+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB11 as ready","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:43:16.810986+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb11 has been classified as Green List (High Evidence).","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:42:58.581857+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZBTB11 as Green List (high evidence)","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:42:58.575052+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb11 has been classified as Green List (High Evidence).","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:42:31.673785+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.605","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZBTB11 was added\ngene: ZBTB11 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB11 were set to 38899514\nPhenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, MIM#\t618383\nReview for gene: ZBTB11 was set to GREEN\nAdded comment: PMID 38899514 reports 29 individuals from 17 unrelated families with biallelic ZBTB11 variants. All affected have neurodevelopmental delay/intellectual disability; 10 patients present with bilateral cataracts. \nSources: Literature","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2026-02-10T13:40:12.960586+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS13B as ready","entity_name":"VPS13B","entity_type":"gene"},{"created":"2026-02-10T13:40:12.953368+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13b has been classified as Green List (High Evidence).","entity_name":"VPS13B","entity_type":"gene"},{"created":"2026-02-10T13:40:07.693321+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13B as Green List (high evidence)","entity_name":"VPS13B","entity_type":"gene"},{"created":"2026-02-10T13:40:07.686604+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13b has been classified as Green List (High Evidence).","entity_name":"VPS13B","entity_type":"gene"},{"created":"2026-02-10T13:39:44.252848+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13B as Green List (high evidence)","entity_name":"VPS13B","entity_type":"gene"},{"created":"2026-02-10T13:39:44.231531+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13b has been classified as Green List (High Evidence).","entity_name":"VPS13B","entity_type":"gene"},{"created":"2026-02-10T13:38:49.491327+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS13B was added\ngene: VPS13B was added to Cataract. Sources: Literature\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13B were set to 40813981; 37901634; 32915983\nPhenotypes for gene: VPS13B were set to Cohen syndrome, MIM#\t216550\nReview for gene: VPS13B was set to GREEN\nAdded comment: PMID 32915983 reports two adult siblings with Cohen syndrome and bilateral nuclear‑sclerotic cataracts; PMID 37901634 reports a 39‑year‑old male with Cohen syndrome, early adult‑onset cataract and two novel VPS13B variants (c.5138T>C missense, c.10179del frameshift); PMID 40813981 reports a 24‑year‑old male with Cohen syndrome, bilateral cataract, spherical lenses, lens subluxation and retinitis pigmentosa carrying a homozygous splice‑site VPS13B variant (c.6865+1G>T). Functional mouse knockout models (Vps13bΔEx3/ΔEx3) develop early‑onset hypermature cataracts, supporting a causal link. \nSources: Literature","entity_name":"VPS13B","entity_type":"gene"},{"created":"2026-02-10T13:36:16.366942+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.601","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP9X as ready","entity_name":"USP9X","entity_type":"gene"},{"created":"2026-02-10T13:36:16.359489+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp9x has been classified as Green List (High Evidence).","entity_name":"USP9X","entity_type":"gene"},{"created":"2026-02-10T13:36:12.816513+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.601","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP9X as Green List (high evidence)","entity_name":"USP9X","entity_type":"gene"},{"created":"2026-02-10T13:36:12.807952+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp9x has been classified as Green List (High Evidence).","entity_name":"USP9X","entity_type":"gene"},{"created":"2026-02-10T13:34:02.883402+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP9X was added\ngene: USP9X was added to Cataract. Sources: Literature\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: USP9X were set to 38099911; 37895297\nPhenotypes for gene: USP9X were set to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, MIM#\t300968\nReview for gene: USP9X was set to GREEN\nAdded comment: PMID 37895297 reports three unrelated female families with heterozygous loss‑of‑function USP9X variants (splice c.1314+2T>C, nonsense c.121G>T, frameshift c.1603dupA) presenting with Axenfeld–Rieger anomaly, congenital glaucoma, corneal neovascularization and cataract (two cases). PMID 38099911 reports an additional unrelated family with a heterozygous USP9X c.799_802del deletion causing bilateral cataracts, posterior lentiglobus and multiple systemic anomalies. \nSources: Literature","entity_name":"USP9X","entity_type":"gene"},{"created":"2026-02-10T13:28:43.836763+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4278","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"FGF10","entity_type":"gene"},{"created":"2026-02-10T13:28:31.798206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4278","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF10","entity_type":"gene"},{"created":"2026-02-10T13:28:07.659753+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: FGF10: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF10","entity_type":"gene"},{"created":"2026-02-10T13:27:52.469068+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"FGF10","entity_type":"gene"},{"created":"2026-02-10T13:27:46.928302+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"1.6","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.; to: Amber for biallelic - 2 families with a lethal congenital alveolar dysplasia phenotype with compound heterozygous coding‑loss‑of‑function with non-coding SNVs in a predicted lung-specific enhancer region.","entity_name":"FGF10","entity_type":"gene"},{"created":"2026-02-10T13:19:34.646688+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRNT1 as ready","entity_name":"TRNT1","entity_type":"gene"},{"created":"2026-02-10T13:19:34.624329+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trnt1 has been classified as Green List (High Evidence).","entity_name":"TRNT1","entity_type":"gene"},{"created":"2026-02-10T13:19:30.783166+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRNT1 as Green List (high evidence)","entity_name":"TRNT1","entity_type":"gene"},{"created":"2026-02-10T13:19:30.775719+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trnt1 has been classified as Green List (High Evidence).","entity_name":"TRNT1","entity_type":"gene"},{"created":"2026-02-10T13:19:00.295726+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.598","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRNT1 was added\ngene: TRNT1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRNT1 were set to 36937953; 34864912; 27389523\nPhenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM#\t616084\nReview for gene: TRNT1 was set to GREEN\nAdded comment: PMID 27389523 reports three affected siblings from one family with childhood cataract, inner retinal dysfunction, immunodeficiency and a homozygous missense TRNT1 p.Arg99Trp variant. PMID 34864912 describes a 49‑year‑old male with congenital cataract, recurrent infections, B‑cell immunodeficiency, periodic fevers and hypergonadotropic hypogonadism carrying the same homozygous p.Arg99Trp variant. PMID 36937953 presents three unrelated patients from two families with sideroblastic anemia, B‑cell immunodeficiency, periodic fevers, developmental delay and bilateral cataracts caused by compound heterozygous TRNT1 variants (c.1246A>G/p.K416E, c.1056+1G>A, c.574C>T/p.Q192*, c.464T>C/p.I155T). Across the three papers there are seven patients from four unrelated families with biallelic loss‑of‑function TRNT1 variants and a consistent phenotype that includes cataract. \nSources: Literature","entity_name":"TRNT1","entity_type":"gene"},{"created":"2026-02-10T13:14:22.277824+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC11 as ready","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2026-02-10T13:14:22.260489+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc11 has been classified as Green List (High Evidence).","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2026-02-10T13:14:17.023152+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAPPC11 as Green List (high evidence)","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2026-02-10T13:14:17.015916+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc11 has been classified as Green List (High Evidence).","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2026-02-10T13:13:38.607908+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAPPC11 was added\ngene: TRAPPC11 was added to Cataract. Sources: Literature\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC11 were set to 34648194; 26322222\nPhenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM#\t615356\nReview for gene: TRAPPC11 was set to GREEN\nAdded comment: PMID 26322222 and PMID 34648194 together describe five individuals from five unrelated families with biallelic loss‑of‑function TRAPPC11 variants. The affected individuals present with congenital/early‑onset muscular dystrophy, infantile‑onset cataract, markedly elevated CK, and multisystem involvement (fatty liver in one family and severe α‑dystroglycan hypoglycosylation in muscle). \nSources: Literature","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2026-02-10T13:11:25.037567+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.595","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOR1AIP1 as ready","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2026-02-10T13:11:25.029176+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tor1aip1 has been classified as Green List (High Evidence).","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2026-02-10T13:11:04.553851+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.595","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TOR1AIP1 as Green List (high evidence)","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2026-02-10T13:11:04.546568+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tor1aip1 has been classified as Green List (High Evidence).","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2026-02-10T13:10:24.410952+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.594","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 32055997; 30723199\nPhenotypes for gene: TOR1AIP1 were set to Syndromic disease, MONDO:0002254, TOR1AIP1-related\nReview for gene: TOR1AIP1 was set to GREEN\nAdded comment: PMID 30723199 reports 7 individuals from 5 unrelated families with biallelic nonsense TOR1AIP1 (c.961C>T) variants presenting with congenital bilateral cataract, severe neurodevelopmental impairment, intra‑uterine growth retardation, microcephaly, sensorineural deafness and cardiac defects. PMID 32055997 adds 2 unrelated individuals from 2 families carrying compound‑heterozygous loss‑of‑function TOR1AIP1 variants (frameshift + missense or nonsense + frameshift) with a closely overlapping multisystemic phenotype that also includes cataract, hearing loss, cardiac disease and muscular atrophy.\r\n\r\nNote gene has been associated with multiple phenotypes, predominantly muscle-related; described as 'envelopathy' in some papers. \nSources: Literature","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2026-02-10T13:06:44.570423+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TONSL as ready","entity_name":"TONSL","entity_type":"gene"},{"created":"2026-02-10T13:06:44.563338+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tonsl has been classified as Green List (High Evidence).","entity_name":"TONSL","entity_type":"gene"},{"created":"2026-02-10T13:06:36.535806+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TONSL as Green List (high evidence)","entity_name":"TONSL","entity_type":"gene"},{"created":"2026-02-10T13:06:36.527320+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tonsl has been classified as Green List (High Evidence).","entity_name":"TONSL","entity_type":"gene"},{"created":"2026-02-10T13:06:06.926390+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TONSL was added\ngene: TONSL was added to Cataract. Sources: Literature\nMode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TONSL were set to 30773277\nPhenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type, MIM#\t271510\nReview for gene: TONSL was set to GREEN\nAdded comment: PMID 30773277 reports 9 individuals from 8 unrelated families with bi‑allelic TONSL variants causing Sponastrime dysplasia, a skeletal dysplasia characterised by disproportionate short stature, platyspondyly, metaphyseal striations and, in three families, childhood bilateral cataracts. \nSources: Literature","entity_name":"TONSL","entity_type":"gene"},{"created":"2026-02-10T13:04:21.808908+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TKT as ready","entity_name":"TKT","entity_type":"gene"},{"created":"2026-02-10T13:04:21.788152+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkt has been classified as Green List (High Evidence).","entity_name":"TKT","entity_type":"gene"},{"created":"2026-02-10T13:04:17.250302+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TKT as Green List (high evidence)","entity_name":"TKT","entity_type":"gene"}]}