{"count":221273,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1937","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1935","results":[{"created":"2020-02-07T12:56:41.474188+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2024","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:56:29.814499+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2024","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAX1 as ready","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:56:29.802523+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hax1 has been classified as Amber List (Moderate Evidence).","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:56:11.987769+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2024","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:55:42.475159+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HAX1 were changed from  to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:55:11.919809+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:54:15.412928+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2022","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HAX1 as Amber List (moderate evidence)","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:54:15.402021+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2022","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hax1 has been classified as Amber List (Moderate Evidence).","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:53:33.039477+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2021","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HAX1","entity_type":"gene"},{"created":"2020-02-07T12:50:21.995316+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:50:19.797598+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HARS2 as ready","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:50:19.785296+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars2 has been classified as Red List (Low Evidence).","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:49:52.783884+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:49:22.994642+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2020","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS2 were changed from  to Perrault syndrome 2, MIM# 614926","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:48:55.422351+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2020","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HARS2 were set to ","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:47:53.309861+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2019","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:47:13.623229+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2018","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HARS2 as Red List (low evidence)","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:47:13.612782+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2018","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars2 has been classified as Red List (Low Evidence).","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:46:32.722157+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2017","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-02-07T12:33:00.009276+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2017","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF3C3 as ready","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2020-02-07T12:32:59.994056+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2017","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf3c3 has been classified as Green List (High Evidence).","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2020-02-07T12:32:44.267010+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2017","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Global developmental delay; Intellectual disability; Seizures","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2020-02-07T12:32:12.230799+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF3C3 were changed from  to Global developmental delay; Intellectual disability; Seizures","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2020-02-07T12:31:34.811396+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2015","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTF3C3 were set to ","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2020-02-07T12:30:57.432181+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2014","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2020-02-07T12:30:13.089710+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2013","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2020-02-07T10:48:46.133300+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2013","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF11 as ready","entity_name":"KIF11","entity_type":"gene"},{"created":"2020-02-07T10:48:46.122833+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2013","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif11 has been classified as Green List (High Evidence).","entity_name":"KIF11","entity_type":"gene"},{"created":"2020-02-07T10:46:36.144886+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2013","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF11 were changed from  to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MIM#152950","entity_name":"KIF11","entity_type":"gene"},{"created":"2020-02-07T10:46:00.805517+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2012","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF11 were set to ","entity_name":"KIF11","entity_type":"gene"},{"created":"2020-02-07T10:45:33.469223+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2012","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF11","entity_type":"gene"},{"created":"2020-02-07T10:43:08.707018+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2011","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSS as ready","entity_name":"GSS","entity_type":"gene"},{"created":"2020-02-07T10:43:08.696590+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2011","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gss has been classified as Green List (High Evidence).","entity_name":"GSS","entity_type":"gene"},{"created":"2020-02-07T10:43:00.047354+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2011","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency, MIM# 266130 to Glutathione synthetase deficiency, MIM# 266130","entity_name":"GSS","entity_type":"gene"},{"created":"2020-02-07T10:42:26.343487+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2010","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GSS were changed from  to Glutathione synthetase deficiency, MIM# 266130","entity_name":"GSS","entity_type":"gene"},{"created":"2020-02-07T10:41:52.540998+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2009","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GSS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GSS","entity_type":"gene"},{"created":"2020-02-07T10:41:07.557572+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2008","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GSS","entity_type":"gene"},{"created":"2020-02-07T10:12:08.242108+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2D as ready","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:12:08.229044+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2d has been classified as Green List (High Evidence).","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:11:57.763971+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIN2D were changed from  to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:11:25.777950+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIN2D were set to ","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:10:50.446754+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.598","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GRIN2D was changed from  to Other","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:10:15.060684+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIN2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:09:35.129191+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27616483, 30280376; Phenotypes: Epileptic encephalopathy, early infantile, 46, MIM# 617162, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:08:25.517450+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2008","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIN2D as ready","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:08:25.506502+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2008","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2d has been classified as Green List (High Evidence).","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:08:10.008201+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2008","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIN2D as Green List (high evidence)","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:08:09.982472+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2008","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grin2d has been classified as Green List (High Evidence).","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:07:02.186524+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2007","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIN2D was added\ngene: GRIN2D was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIN2D were set to 27616483; 30280376\nPhenotypes for gene: GRIN2D were set to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability\nMode of pathogenicity for gene: GRIN2D was set to Other\nReview for gene: GRIN2D was set to GREEN\ngene: GRIN2D was marked as current diagnostic\nAdded comment: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism. \nSources: Expert list","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2020-02-07T10:03:19.613712+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2006","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27212378, 24281367; Phenotypes: 1. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (OMIM), 2. Familial exudative vitreoretinopathy (FEVR) (PMID: 27212378); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF11","entity_type":"gene"},{"created":"2020-02-07T09:59:46.584749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIA1 as ready","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:59:46.574025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria1 has been classified as Green List (High Evidence).","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:59:35.529833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIA1 as Green List (high evidence)","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:59:35.518644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria1 has been classified as Green List (High Evidence).","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:59:11.461894+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1273","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIA1 was added\ngene: GRIA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178\nPhenotypes for gene: GRIA1 were set to Intellectual disability; autism\nReview for gene: GRIA1 was set to GREEN\nAdded comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant. \nSources: Expert list","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:56:58.549371+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2006","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIA1 as ready","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:56:58.538536+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria1 has been classified as Green List (High Evidence).","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:53:30.411968+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2006","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIA1 as Green List (high evidence)","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:53:30.387378+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria1 has been classified as Green List (High Evidence).","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T09:41:13.573776+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2005","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIA1 was added\ngene: GRIA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178\nPhenotypes for gene: GRIA1 were set to Intellectual disability; autism\nReview for gene: GRIA1 was set to GREEN\nAdded comment: Multiple affected individuals reported but in large ID cohorts reporting multiple candidate genes. Recurrent (p.A636T) variant. \nSources: Expert list","entity_name":"GRIA1","entity_type":"gene"},{"created":"2020-02-07T07:56:29.874985+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2004","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPHN were set to ","entity_name":"GPHN","entity_type":"gene"},{"created":"2020-02-07T07:54:51.376317+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2003","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GPHN as Amber List (moderate evidence)","entity_name":"GPHN","entity_type":"gene"},{"created":"2020-02-07T07:54:51.365692+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2003","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gphn has been classified as Amber List (Moderate Evidence).","entity_name":"GPHN","entity_type":"gene"},{"created":"2020-02-07T07:54:02.137065+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2002","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GPHN.","entity_name":"GPHN","entity_type":"gene"},{"created":"2020-02-07T07:53:50.086222+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2002","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GPHN: Added comment: Only two families reported with bi-allelic variants. Also note reports of mono-allelic deletions associated with ID/autism/SZ.; Changed rating: AMBER; Changed publications: 22040219, 26613940, 24561070, 23393157; Changed phenotypes: Molybdenum cofactor deficiency C, MIM#615501, intellectual disability; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GPHN","entity_type":"gene"},{"created":"2020-02-07T07:22:37.182487+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2002","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GORAB as Amber List (moderate evidence)","entity_name":"GORAB","entity_type":"gene"},{"created":"2020-02-07T07:22:37.171894+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2002","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gorab has been classified as Amber List (Moderate Evidence).","entity_name":"GORAB","entity_type":"gene"},{"created":"2020-02-07T07:21:46.281920+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GORAB: Added comment: Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.; Changed rating: AMBER","entity_name":"GORAB","entity_type":"gene"},{"created":"2020-02-07T07:15:23.539277+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: GNAQ.","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-02-06T22:22:36.380420+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AFG3L2 as Red List (low evidence)","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-06T22:22:36.369324+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: afg3l2 has been classified as Red List (Low Evidence).","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-06T22:18:13.616180+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-02-06T22:14:41.475789+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MEN1 as Green List (high evidence)","entity_name":"MEN1","entity_type":"gene"},{"created":"2020-02-06T22:14:41.470768+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Gene requested by endocrinologists at RMH to be on this panel","entity_name":"MEN1","entity_type":"gene"},{"created":"2020-02-06T22:14:41.431728+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: men1 has been classified as Green List (High Evidence).","entity_name":"MEN1","entity_type":"gene"},{"created":"2020-02-06T22:11:56.599479+11:00","panel_name":"Hypercalcaemia","panel_id":117,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MEN1 was added\ngene: MEN1 was added to Hypercalcaemia. Sources: Expert list\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MEN1 were set to 31797261; 14985373\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100\nReview for gene: MEN1 was set to GREEN\nAdded comment: Hypercalcaemia is a prominent feature of familial hyperparathyroidism that has been caused by MEN1 in at least 5 cases. \nSources: Expert list","entity_name":"MEN1","entity_type":"gene"},{"created":"2020-02-06T21:49:23.570056+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Leukodystrophy - paediatric_RMH to Leukodystrophy - paediatric","entity_name":null,"entity_type":null},{"created":"2020-02-06T21:41:40.106154+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Ataxia - paediatric_RMH to Ataxia - paediatric\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-06T21:15:04.165027+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MARS2 as ready","entity_name":"MARS2","entity_type":"gene"},{"created":"2020-02-06T21:15:04.153103+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mars2 has been classified as Amber List (Moderate Evidence).","entity_name":"MARS2","entity_type":"gene"},{"created":"2020-02-06T21:10:15.219041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RCC1L as ready","entity_name":"RCC1L","entity_type":"gene"},{"created":"2020-02-06T21:10:15.208511+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rcc1l has been classified as Red List (Low Evidence).","entity_name":"RCC1L","entity_type":"gene"},{"created":"2020-02-06T21:10:02.236990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RCC1L as Red List (low evidence)","entity_name":"RCC1L","entity_type":"gene"},{"created":"2020-02-06T21:10:02.223138+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rcc1l has been classified as Red List (Low Evidence).","entity_name":"RCC1L","entity_type":"gene"},{"created":"2020-02-06T21:08:39.334585+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS13A as ready","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T21:08:39.323676+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13a has been classified as Green List (High Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T21:08:27.920335+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13A as Green List (high evidence)","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T21:08:27.895972+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13a has been classified as Green List (High Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T21:03:18.115014+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-06T20:55:13.138726+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PINK1","entity_type":"gene"},{"created":"2020-02-06T20:54:13.800932+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PRKN as ready","entity_name":"PRKN","entity_type":"gene"},{"created":"2020-02-06T20:54:13.790386+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prkn has been classified as Green List (High Evidence).","entity_name":"PRKN","entity_type":"gene"},{"created":"2020-02-06T20:41:05.789058+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PRKN were changed from  to Parkinson disease, juvenile, type 2 MIM#600116","entity_name":"PRKN","entity_type":"gene"},{"created":"2020-02-06T20:36:52.171130+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKN","entity_type":"gene"},{"created":"2020-02-06T20:32:22.370479+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: SPG11 were changed from  to Spastic paraplegia 11, autosomal recessive MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Amyotrophic lateral sclerosis 5, juvenile MIM#602099","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-02-06T20:31:04.252729+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-02-06T20:29:31.168587+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: VPS13A were changed from  to Choreoacanthocytosis MIM#200150","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T20:29:02.506863+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T20:24:25.264816+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"VPS35","entity_type":"gene"},{"created":"2020-02-06T20:23:33.269441+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: VPS35 were changed from  to {Parkinson disease 17} MIM#614203; Cognitive decline","entity_name":"VPS35","entity_type":"gene"}]}