{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1738","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1736","results":[{"created":"2020-07-08T18:03:26.269553+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3R1 were changed from  to SHORT syndrome, MIM# 269880","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-07-08T18:03:02.599797+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-07-08T18:02:42.409617+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3R1 as Amber List (moderate evidence)","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-07-08T18:02:42.399874+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3r1 has been classified as Amber List (Moderate Evidence).","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-07-08T18:02:14.292584+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-07-08T17:52:40.295650+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJA1 as ready","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-07-08T17:52:40.285140+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja1 has been classified as Red List (Low Evidence).","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-07-08T17:52:37.810652+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJA1 were changed from  to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-07-08T17:52:15.881466+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-07-08T17:51:55.261242+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJA1 as Red List (low evidence)","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-07-08T17:51:55.251862+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja1 has been classified as Red List (Low Evidence).","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-07-08T17:51:32.258591+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-07-08T17:36:37.374827+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCAT as ready","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-08T17:36:37.371816+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Some phenotypic overlap.","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-08T17:36:37.347869+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcat has been classified as Red List (Low Evidence).","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-08T17:36:22.713967+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCAT as Red List (low evidence)","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-08T17:36:22.704641+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcat has been classified as Red List (Low Evidence).","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-08T17:35:39.875334+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643; Mode of inheritance: None","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-07-08T17:34:42.344109+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT4 as ready","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T17:34:42.333686+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt4 has been classified as Amber List (Moderate Evidence).","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T17:34:38.033440+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT4 were changed from  to Mullerian aplasia and hyperandrogenism (MIM#158330)","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T17:34:09.562891+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT4 were set to ","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T17:33:47.969431+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T17:33:31.502896+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT4 as Amber List (moderate evidence)","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T17:33:31.493221+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt4 has been classified as Amber List (Moderate Evidence).","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T17:31:35.986614+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZFPM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:30:54.111284+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFPM2 as ready","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:30:54.093187+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfpm2 has been classified as Red List (Low Evidence).","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:30:51.138602+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZFPM2 were changed from  to 46XY sex reversal 9 (MIM#616067)","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:30:29.709803+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFPM2 were set to ","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:30:08.052295+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZFPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:29:48.809994+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFPM2 as Red List (low evidence)","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:29:48.799539+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfpm2 has been classified as Red List (Low Evidence).","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:29:27.139879+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Tag refuted tag was added to gene: ZFPM2.","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T17:19:37.373481+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V1A as Amber List (moderate evidence)","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-07-08T17:19:37.363679+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Amber List (Moderate Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-07-08T17:19:15.369993+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28065471; Phenotypes: Cutis laxa, autosomal recessive, type IID, MIM# 617403; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-07-08T17:17:03.682676+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYCR1 as ready","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T17:17:03.674813+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T17:17:00.902553+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PYCR1 were changed from  to Cutis laxa, autosomal recessive, type IIB, MIM#\t612940; Cutis laxa, autosomal recessive, type IIIB, MIM#\t614438","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T17:16:14.859065+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYCR1 as Green List (high evidence)","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T17:16:14.848794+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T17:09:09.899961+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.207","user_name":"Dean Phelan","item_type":"entity","text":"gene: LCAT was added\ngene: LCAT was added to Cataract. Sources: Literature\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nReview for gene: LCAT was set to RED\nAdded comment: OMIM:\r\nNorum disease (AR) - Corneal lipid deposits, Corneal opacities\r\nFish-eye disease (AR) - Corneal opacities\r\n\r\nDiscussion with ZS - Corneal opacities not the same as cataracts and often misdiagnosed.  Therefore leave as Red at this stage. \nSources: Literature","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-08T17:01:16.662898+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.207","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: ISPD as ready","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-07-08T17:01:16.648758+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.207","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ispd has been classified as Green List (High Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-07-08T17:01:06.028105+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.207","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: ISPD as Green List (high evidence)","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-07-08T17:01:06.018557+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.207","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ispd has been classified as Green List (High Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-07-08T17:00:36.838778+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.206","user_name":"Seb Lunke","item_type":"entity","text":"gene: ISPD was added\ngene: ISPD was added to Cataract. Sources: Literature\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISPD were set to 22522421; 22522420\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7\tMIM#614643\nAdded comment: >10 independent patients with congential cataract as part of muscular dystrophy presentation, plus functional studies in zebra fish. \nSources: Literature","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-07-08T16:56:36.289565+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.205","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: GFER as ready","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:56:36.282672+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.205","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gfer has been classified as Green List (High Evidence).","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:56:29.427844+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.205","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: GFER were set to 19409522; 25269795","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:55:54.256649+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.204","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: GFER as Green List (high evidence)","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:55:54.247117+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.204","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gfer has been classified as Green List (High Evidence).","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:55:27.854204+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2H5 as ready","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-07-08T16:55:27.846993+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2h5 has been classified as Green List (High Evidence).","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-07-08T16:55:24.421740+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTF2H5 as Green List (high evidence)","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-07-08T16:55:24.414468+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2h5 has been classified as Green List (High Evidence).","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-07-08T16:54:38.999622+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LONP1 as ready","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-07-08T16:54:38.983655+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp1 has been classified as Green List (High Evidence).","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-07-08T16:54:35.189740+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LONP1 as Green List (high evidence)","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-07-08T16:54:35.179790+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp1 has been classified as Green List (High Evidence).","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-07-08T16:53:54.291666+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families.; to: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families (PMID: 28155230).","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:53:31.519453+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: GFER: Added comment: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families.; Changed rating: GREEN; Changed publications: 19409522, 25269795,28155230","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:53:26.208986+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: GTF2H5: Changed publications: 15220921, 24986372","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-07-08T16:53:21.413479+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Naomi Baker","item_type":"entity","text":"changed review comment from: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). \nSources: Literature; to: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of patients with infantile cataract identified a biallelic LONP1 mutation in a patient who was otherwise healthy (PMID: 29408517). \r\nSources: Literature","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-07-08T16:53:15.759845+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Ain Roesley","item_type":"entity","text":"gene: GTF2H5 was added\ngene: GTF2H5 was added to Cataract. Sources: Literature\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H5 were set to 15220921,24986372\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive (MIM# 616395)\nPenetrance for gene: GTF2H5 were set to unknown\nReview for gene: GTF2H5 was set to GREEN\nAdded comment: PMID: 24986372;\r\nA 5‐year‐old male, born as a collodion baby from healthy non‐consanguineous parents, exhibited sun sensitivity, brittle hair, ichthyosis, cataracts and mental/physical retardation. He demonstrated neither neurological abnormalities nor pigmentary changes following sun exposure. Homozygous for a nonsense variant.\r\n\r\nPMID: 15220921;\r\n2 out of 4 patients have cataracts. The 2 patients without cataracts are siblings. (2x homs for PTVs, 1x chet for PTV and missense) \nSources: Literature","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2020-07-08T16:52:10.608875+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Naomi Baker","item_type":"entity","text":"gene: LONP1 was added\ngene: LONP1 was added to Cataract. Sources: Literature\nMode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LONP1 were set to PMID: 25574826; 29408517.\nPhenotypes for gene: LONP1 were set to CODAS syndrome MIM# 600373\nPenetrance for gene: LONP1 were set to Complete\nReview for gene: LONP1 was set to GREEN\nAdded comment: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). \nSources: Literature","entity_name":"LONP1","entity_type":"gene"},{"created":"2020-07-08T16:50:42.740036+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).\r\n\r\nStudies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects. \nSources: Literature; to: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).\r\n\r\nStudies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects. \r\nSources: Literature","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:48:24.321813+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Seb Lunke","item_type":"entity","text":"edited their review of gene: GEMIN4: Changed rating: AMBER; Changed phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:46:02.353174+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Paul De Fazio","item_type":"entity","text":"gene: GFER was added\ngene: GFER was added to Cataract. Sources: Literature\nMode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFER were set to 19409522; 25269795\nPhenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076\nReview for gene: GFER was set to AMBER\ngene: GFER was marked as current diagnostic\nAdded comment: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).\r\n\r\nStudies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects. \nSources: Literature","entity_name":"GFER","entity_type":"gene"},{"created":"2020-07-08T16:45:34.628957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3281","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM#\t618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#\t618412 to Epileptic encephalopathy, early infantile, 71, MIM#\t618328; Global developmental delay, progressive ataxia, and elevated glutamine, MIM#\t618412; Cataract","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:44:49.549153+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2747","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GLS was changed from None to Other","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:44:26.024747+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3280","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLS were set to 30575854; 30970188","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:44:12.761120+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3279","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:43:55.128162+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3278","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLS: Added comment: In addition, single individual also reported with de novo, GoF variant with profound ID, cataract.; Changed publications: 30575854, 30970188, 30239721","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:43:49.480609+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2746","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLS were set to 30970188","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:43:23.532410+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3278","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLS: Changed phenotypes: Epileptic encephalopathy, early infantile, 71, MIM# 618328, Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412, Catarct; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:43:05.776348+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2745","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLS as Green List (high evidence)","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:43:05.765970+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2745","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Green List (High Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:42:39.322584+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2744","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GLS: Added comment: Another three individuals from two unrelated families reported with early neonatal refractory seizures, structural brain abnormalities and oedema; significantly increased glutamine levels (PMID: 30575854).; Changed rating: GREEN; Changed publications: 30970188, 30239721, 30575854; Changed phenotypes: Epileptic encephalopathy, early infantile, 71, MIM# 618328, Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:39:25.566379+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLS as ready","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:39:25.555649+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Amber List (Moderate Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:39:21.311374+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLS as Amber List (moderate evidence)","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:39:21.304186+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gls has been classified as Amber List (Moderate Evidence).","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:38:59.734652+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLS was added\ngene: GLS was added to Cataract. Sources: Expert list\nMode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLS were set to 30239721\nPhenotypes for gene: GLS were set to Infantile cataracts\nReview for gene: GLS was set to AMBER\nAdded comment: Single family and a zebrafish model. \nSources: Expert list","entity_name":"GLS","entity_type":"gene"},{"created":"2020-07-08T16:38:11.589771+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.199","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: GEMIN4 as ready","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:38:11.579615+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.199","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gemin4 has been classified as Amber List (Moderate Evidence).","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:37:52.753243+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.199","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: GEMIN4 as Amber List (moderate evidence)","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:37:52.743494+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.199","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gemin4 has been classified as Amber List (Moderate Evidence).","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:37:20.015821+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.198","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: GEMIN4 as ready","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:37:20.012818+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.198","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment when marking as ready: 5 individuals from 3 consanguineous families reported originally; same homozygous missense in all. Another individual reported with different variant as part of a study reporting large number of novel/emerging genes in consanguineous cohort.","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:37:19.988641+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.198","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gemin4 has been classified as Green List (High Evidence).","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:36:17.898070+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.198","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: GEMIN4 as Green List (high evidence)","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:36:17.891696+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.198","user_name":"Seb Lunke","item_type":"entity","text":"Gene: gemin4 has been classified as Green List (High Evidence).","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:35:45.322810+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.197","user_name":"Seb Lunke","item_type":"entity","text":"gene: GEMIN4 was added\ngene: GEMIN4 was added to Cataract. Sources: Literature\nMode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GEMIN4 were set to 25558065; 27878435\nPhenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities,\t617913\nReview for gene: GEMIN4 was set to GREEN\nAdded comment: From GEL: PMID: 25558065 reported on 5 affected patients from 3 unrelated consanguineous Saudi families with neurodevelopmental disorder, microcephaly cataracts and renal abnormalities. PMID: 27878435 reported on a different family with a different variant that was previously reported. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. \nSources: Literature","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2020-07-08T16:33:08.052308+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHS as ready","entity_name":"NHS","entity_type":"gene"},{"created":"2020-07-08T16:33:08.041241+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhs has been classified as Green List (High Evidence).","entity_name":"NHS","entity_type":"gene"},{"created":"2020-07-08T16:33:05.843861+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NHS were changed from  to Nance-Horan syndrome (MIM# 302350)","entity_name":"NHS","entity_type":"gene"},{"created":"2020-07-08T16:32:49.607194+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NHS were set to ","entity_name":"NHS","entity_type":"gene"},{"created":"2020-07-08T16:32:29.874229+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NHS","entity_type":"gene"}]}