{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=725","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=723","results":[{"created":"2022-10-06T14:46:12.755994+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1680","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ATP6V0C as Green List (high evidence)","entity_name":"ATP6V0C","entity_type":"gene"},{"created":"2022-10-06T14:46:12.748386+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1680","user_name":"Alison Yeung","item_type":"entity","text":"Gene: atp6v0c has been classified as Green List (High Evidence).","entity_name":"ATP6V0C","entity_type":"gene"},{"created":"2022-10-06T14:45:25.073059+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.364","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA5 as Green List (high evidence)","entity_name":"LAMA5","entity_type":"gene"},{"created":"2022-10-06T14:45:25.053722+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.364","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama5 has been classified as Green List (High Evidence).","entity_name":"LAMA5","entity_type":"gene"},{"created":"2022-10-06T14:45:21.098004+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1679","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: ATP6V0C as Green List (high evidence)","entity_name":"ATP6V0C","entity_type":"gene"},{"created":"2022-10-06T14:45:21.088501+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1679","user_name":"Alison Yeung","item_type":"entity","text":"Gene: atp6v0c has been classified as Green List (High Evidence).","entity_name":"ATP6V0C","entity_type":"gene"},{"created":"2022-10-06T14:44:50.392837+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.363","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35419533; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA5","entity_type":"gene"},{"created":"2022-10-06T14:44:06.891961+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4970","user_name":"Anna Ritchie","item_type":"entity","text":"reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36121006; Phenotypes: Developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRG1","entity_type":"gene"},{"created":"2022-10-06T14:43:23.277753+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA5 were changed from Nephrotic syndrome to Nephrotic syndrome, type 26 620049","entity_name":"LAMA5","entity_type":"gene"},{"created":"2022-10-06T14:43:01.140244+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.213","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC13A1 as ready","entity_name":"SLC13A1","entity_type":"gene"},{"created":"2022-10-06T14:43:01.129257+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.213","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc13a1 has been classified as Red List (Low Evidence).","entity_name":"SLC13A1","entity_type":"gene"},{"created":"2022-10-06T14:42:48.720746+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.213","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC13A1 as Red List (low evidence)","entity_name":"SLC13A1","entity_type":"gene"},{"created":"2022-10-06T14:42:48.717535+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.213","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Lots of hets and 1 hom, authors claim \"predisposing to degenerative bone and joint disease\"","entity_name":"SLC13A1","entity_type":"gene"},{"created":"2022-10-06T14:42:48.693545+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.213","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc13a1 has been classified as Red List (Low Evidence).","entity_name":"SLC13A1","entity_type":"gene"},{"created":"2022-10-06T14:42:25.241382+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA5 as Green List (high evidence)","entity_name":"LAMA5","entity_type":"gene"},{"created":"2022-10-06T14:42:25.234355+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama5 has been classified as Green List (High Evidence).","entity_name":"LAMA5","entity_type":"gene"},{"created":"2022-10-06T14:41:54.222413+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA5","entity_type":"gene"},{"created":"2022-10-06T14:41:29.899430+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.363","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NAPB as ready","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:41:29.890905+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.363","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:41:24.392808+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.160","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NAPB as ready","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:41:24.382957+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.160","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:41:17.283753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.363","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NAPB as Green List (high evidence)","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:41:17.272773+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.363","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:40:49.886195+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.160","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NAPB as Green List (high evidence)","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:40:49.876437+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.160","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:40:18.035434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKBP6 as ready","entity_name":"FKBP6","entity_type":"gene"},{"created":"2022-10-06T14:40:18.008290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp6 has been classified as Green List (High Evidence).","entity_name":"FKBP6","entity_type":"gene"},{"created":"2022-10-06T14:40:01.186072+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKBP6 as Green List (high evidence)","entity_name":"FKBP6","entity_type":"gene"},{"created":"2022-10-06T14:40:01.169370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp6 has been classified as Green List (High Evidence).","entity_name":"FKBP6","entity_type":"gene"},{"created":"2022-10-06T14:39:26.989088+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1678","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NAPB as ready","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:39:26.980936+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1678","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:39:06.937987+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1678","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NAPB as Green List (high evidence)","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:39:06.930114+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1678","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:38:53.539102+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.454","user_name":"David Amor","item_type":"entity","text":"reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OSMR","entity_type":"gene"},{"created":"2022-10-06T14:38:04.214590+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4970","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: NAPB as ready","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:38:04.206439+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4970","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:37:50.520382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.361","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: MTSS1L as ready","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:37:50.497509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.361","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Green List (High Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:37:45.223249+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4970","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: NAPB as Green List (high evidence)","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:37:45.214446+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4970","user_name":"Alison Yeung","item_type":"entity","text":"Gene: napb has been classified as Green List (High Evidence).","entity_name":"NAPB","entity_type":"gene"},{"created":"2022-10-06T14:37:44.474794+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4969","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V0C","entity_type":"gene"},{"created":"2022-10-06T14:37:30.390266+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.148","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: MTSS1L as ready","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:37:30.379247+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.148","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Amber List (Moderate Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:37:12.194512+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.148","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MTSS1L as Amber List (moderate evidence)","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:37:12.186538+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.148","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Amber List (Moderate Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:37:12.161897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOSL2 as ready","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:37:12.154104+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:37:03.337611+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOSL2 as Green List (high evidence)","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:37:03.328828+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:34.842470+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOSL2 as ready","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:34.830017+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:28.850356+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.147","user_name":"Elena Savva","item_type":"entity","text":"gene: MTSS1L was added\ngene: MTSS1L was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)\nReview for gene: MTSS1L was set to AMBER\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with sensorineural hearing loss (2/4)\r\n- Overexpression supports a DN mechanism \nSources: Literature","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:36:26.422440+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.361","user_name":"Ee Ming Wong","item_type":"entity","text":"edited their review of gene: SARS: Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families\r\n-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation; Changed rating: GREEN; Changed publications: 36088542; Changed phenotypes: Genetic peripheral neuropathy MONDO#0020127, SARS1-related","entity_name":"SARS","entity_type":"gene"},{"created":"2022-10-06T14:36:25.294800+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOSL2 as Green List (high evidence)","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:25.286690+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:09.641433+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4969","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOSL2 as ready","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:09.632366+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4969","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:08.430783+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1677","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V0C","entity_type":"gene"},{"created":"2022-10-06T14:36:01.925816+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4969","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOSL2 as Green List (high evidence)","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:36:01.917303+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4969","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:35:13.348814+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOSL2 as ready","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:35:13.341544+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:35:00.755281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOSL2 as Green List (high evidence)","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:35:00.740152+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:34:35.862127+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.16","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS1-related (MONDO#0001071) to Intellectual disability, MTSS2-related (MONDO#0001071)","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:34:34.165617+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOSL2 as ready","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:34:34.157715+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:34:26.292498+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOSL2 as Green List (high evidence)","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:34:26.284803+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:33:54.120983+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.159","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: MTSS1L as ready","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:33:54.112264+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.159","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Green List (High Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:33:53.455847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.360","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MTSS1L as Green List (high evidence)","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:33:53.447546+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.360","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Green List (High Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:33:53.418505+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.159","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MTSS1L as Green List (high evidence)","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:33:53.410501+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.159","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Green List (High Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:33:50.632917+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOSL2 as ready","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:33:50.620496+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:33:46.874839+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOSL2 as Green List (high evidence)","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:33:46.867447+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fosl2 has been classified as Green List (High Evidence).","entity_name":"FOSL2","entity_type":"gene"},{"created":"2022-10-06T14:33:30.927630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.359","user_name":"Elena Savva","item_type":"entity","text":"gene: MTSS1L was added\ngene: MTSS1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)\nReview for gene: MTSS1L was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.\r\n- Overexpression supports a DN mechanism \nSources: Literature","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:33:14.426350+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4968","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SLC32A1 was added\ngene: SLC32A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC32A1 were set to 36073542\nPhenotypes for gene: SLC32A1 were set to developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related\nReview for gene: SLC32A1 was set to GREEN\nAdded comment: PMID: 36073542- 4 patients with de novo missense.  All have moderate to severe ID or developmental delay and seizures. 3 have a movement disorder. Developmental delay appears to be a new association for this gene described in this paper. \nSources: Literature","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2022-10-06T14:32:43.717282+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.158","user_name":"Elena Savva","item_type":"entity","text":"gene: MTSS1L was added\ngene: MTSS1L was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)\nReview for gene: MTSS1L was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with microcephaly or relative microcephaly (5/5)\r\n- Overexpression supports a DN mechanism \nSources: Literature","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:32:20.418957+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1677","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: GCSH as Green List (high evidence)","entity_name":"GCSH","entity_type":"gene"},{"created":"2022-10-06T14:32:20.411608+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1677","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gcsh has been classified as Green List (High Evidence).","entity_name":"GCSH","entity_type":"gene"},{"created":"2022-10-06T14:31:59.294733+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1677","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: GCSH as Green List (high evidence)","entity_name":"GCSH","entity_type":"gene"},{"created":"2022-10-06T14:31:59.281872+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1677","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gcsh has been classified as Green List (High Evidence).","entity_name":"GCSH","entity_type":"gene"},{"created":"2022-10-06T14:31:32.616492+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RABGAP1 as ready","entity_name":"RABGAP1","entity_type":"gene"},{"created":"2022-10-06T14:31:32.606481+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rabgap1 has been classified as Green List (High Evidence).","entity_name":"RABGAP1","entity_type":"gene"},{"created":"2022-10-06T14:31:26.624839+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RABGAP1 as Green List (high evidence)","entity_name":"RABGAP1","entity_type":"gene"},{"created":"2022-10-06T14:31:26.615373+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rabgap1 has been classified as Green List (High Evidence).","entity_name":"RABGAP1","entity_type":"gene"},{"created":"2022-10-06T14:31:19.731517+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1676","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GCSH as ready","entity_name":"GCSH","entity_type":"gene"},{"created":"2022-10-06T14:31:19.723408+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1676","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gcsh has been classified as Red List (Low Evidence).","entity_name":"GCSH","entity_type":"gene"},{"created":"2022-10-06T14:31:07.638914+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RABGAP1 as Green List (high evidence)","entity_name":"RABGAP1","entity_type":"gene"},{"created":"2022-10-06T14:31:07.631352+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rabgap1 has been classified as Green List (High Evidence).","entity_name":"RABGAP1","entity_type":"gene"},{"created":"2022-10-06T14:31:01.290951+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4968","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MTSS1L as Green List (high evidence)","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:31:01.283100+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4968","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Green List (High Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:30:44.917427+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.15","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MTSS1L as Green List (high evidence)","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:30:44.906159+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.15","user_name":"Elena Savva","item_type":"entity","text":"Gene: mtss1l has been classified as Green List (High Evidence).","entity_name":"MTSS1L","entity_type":"gene"},{"created":"2022-10-06T14:30:40.237642+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1676","user_name":"Ain Roesley","item_type":"entity","text":"gene: GCSH was added\ngene: GCSH was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCSH were set to 36190515\nPhenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related\nPenetrance for gene: GCSH were set to Complete\nReview for gene: GCSH was set to GREEN\ngene: GCSH was marked as current diagnostic\nAdded comment: 6x individuals, 3x with severe fatal glycine encephalopathy and 3x attenuated phenotype of developmental delay, behavioural problems, limited epilepsy, and variable movement problems\r\n\r\nSevere fatal variants: 2x start loss and 1x missense\r\nAttenuated variants : 2x missense and 1x exon 4-5 dup \nSources: Literature","entity_name":"GCSH","entity_type":"gene"},{"created":"2022-10-06T14:30:30.333762+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.14","user_name":"Elena Savva","item_type":"entity","text":"gene: MTSS1L was added\ngene: MTSS1L was added to Congenital nystagmus. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071)\nReview for gene: MTSS1L was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5)\r\n- Overexpression supports a DN mechanism \nSources: Literature","entity_name":"MTSS1L","entity_type":"gene"}]}