{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1771","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1769","results":[{"created":"2020-06-13T17:53:00.954222+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A1 were set to ","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:52:29.977276+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A1 as ready","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:52:29.963597+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a1 has been classified as Green List (High Evidence).","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:52:23.880464+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2692","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:51:54.503807+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A1 were changed from  to Myoclonic-atonic epilepsy, MIM#616421","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:51:46.923110+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2691","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:50:39.947775+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A1 were set to ","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:50:15.681138+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:49:44.196001+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:48:14.167552+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.722","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A1 as ready","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:48:14.155294+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.722","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a1 has been classified as Green List (High Evidence).","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:48:10.306979+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.722","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A1 were changed from  to Myoclonic-atonic epilepsy, MIM#616421","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:47:40.617577+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.721","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A1 were set to ","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:47:11.355626+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.720","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:46:39.750123+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.719","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:45:29.304689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3057","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A1 as ready","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:45:29.295535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3057","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a1 has been classified as Green List (High Evidence).","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:45:20.152282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3057","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A1 were changed from  to Myoclonic-atonic epilepsy, MIM#616421","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:45:03.221535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3056","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A1 were set to ","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:44:42.408423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3055","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-13T17:43:49.755430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3054","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATM as ready","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:43:49.746487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3054","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gatm has been classified as Green List (High Evidence).","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:43:35.814437+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3054","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATM were changed from  to Cerebral creatine deficiency syndrome 3, MIM# 612718; Fanconi renotubular syndrome 1, MIM# 134600","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:43:09.178832+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3053","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATM were set to ","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:42:40.547863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3052","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:42:10.769651+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3051","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973, 29654216; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718, Fanconi renotubular syndrome 1, MIM# 134600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:38:20.912851+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATM as ready","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:38:20.902642+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gatm has been classified as Green List (High Evidence).","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:38:16.986155+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATM were changed from  to Cerebral creatine deficiency syndrome 3, MIM# 612718","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:36:22.769319+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATM were set to ","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:35:52.209621+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:35:21.198572+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:34:01.503273+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2691","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATM as ready","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:34:01.494286+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2691","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gatm has been classified as Green List (High Evidence).","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:33:55.508592+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2691","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATM were changed from  to Cerebral creatine deficiency syndrome 3, MIM# 612718","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:33:18.211062+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2690","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATM were set to ","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:32:42.764136+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2689","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-13T17:27:27.165956+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2688","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GATM","entity_type":"gene"},{"created":"2020-06-12T18:42:19.842481+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FUT2 as ready","entity_name":"FUT2","entity_type":"gene"},{"created":"2020-06-12T18:42:19.833432+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fut2 has been classified as Red List (Low Evidence).","entity_name":"FUT2","entity_type":"gene"},{"created":"2020-06-12T18:42:13.666526+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FUT2 was added\ngene: FUT2 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: FUT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUT2 were set to Norwalk virus infection, resistance to\nReview for gene: FUT2 was set to RED\nAdded comment: Not a monogenic condition, but individuals homozygous for p.(Trp143Ter) are resistant to norovirus infection. \nSources: Expert list","entity_name":"FUT2","entity_type":"gene"},{"created":"2020-06-12T18:38:07.963962+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCR5 as ready","entity_name":"CCR5","entity_type":"gene"},{"created":"2020-06-12T18:38:07.954447+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccr5 has been classified as Green List (High Evidence).","entity_name":"CCR5","entity_type":"gene"},{"created":"2020-06-12T18:38:03.937022+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCR5 as Green List (high evidence)","entity_name":"CCR5","entity_type":"gene"},{"created":"2020-06-12T18:38:03.926009+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccr5 has been classified as Green List (High Evidence).","entity_name":"CCR5","entity_type":"gene"},{"created":"2020-06-12T18:37:34.330003+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCR5 was added\ngene: CCR5 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: CCR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CCR5 were set to {Hepatitis C virus, resistance to}\t609532; {HIV infection, susceptibility/resistance to}; {West nile virus, susceptibility to}MIM#\t610379\nReview for gene: CCR5 was set to GREEN\nAdded comment: Particular SNVs in this gene are well established as conferring resistance to certain viral infections, notably HIV. \nSources: Expert list","entity_name":"CCR5","entity_type":"gene"},{"created":"2020-06-12T18:31:24.461749+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF4 as ready","entity_name":"TNFRSF4","entity_type":"gene"},{"created":"2020-06-12T18:31:24.451166+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf4 has been classified as Red List (Low Evidence).","entity_name":"TNFRSF4","entity_type":"gene"},{"created":"2020-06-12T18:31:17.296352+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNFRSF4 was added\ngene: TNFRSF4 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: TNFRSF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF4 were set to 23897980\nPhenotypes for gene: TNFRSF4 were set to Immunodeficiency 16, MIM#\t615593\nReview for gene: TNFRSF4 was set to RED\nAdded comment: Single case report in an individual with childhood-onset Kaposi's sarcoma (susceptibility to HHV8), homozygous missense variant, plausible biological candidate but direct evidence of causality limited. \nSources: Expert list","entity_name":"TNFRSF4","entity_type":"gene"},{"created":"2020-06-12T18:26:06.756639+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAGT1 as ready","entity_name":"MAGT1","entity_type":"gene"},{"created":"2020-06-12T18:26:06.746444+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: magt1 has been classified as Green List (High Evidence).","entity_name":"MAGT1","entity_type":"gene"},{"created":"2020-06-12T18:26:02.595583+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAGT1 as Green List (high evidence)","entity_name":"MAGT1","entity_type":"gene"},{"created":"2020-06-12T18:26:02.583942+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: magt1 has been classified as Green List (High Evidence).","entity_name":"MAGT1","entity_type":"gene"},{"created":"2020-06-12T18:25:32.249715+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAGT1 was added\ngene: MAGT1 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAGT1 were set to 21796205; 24550228; 25504528\nPhenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM#\t300853\nReview for gene: MAGT1 was set to GREEN\nAdded comment: Multiple unrelated families reported. \nSources: Expert list","entity_name":"MAGT1","entity_type":"gene"},{"created":"2020-06-12T18:21:42.619137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3051","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM69 as ready","entity_name":"TRIM69","entity_type":"gene"},{"created":"2020-06-12T18:21:42.609733+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3051","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim69 has been classified as Red List (Low Evidence).","entity_name":"TRIM69","entity_type":"gene"},{"created":"2020-06-12T18:21:31.416485+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3051","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM69 was added\ngene: TRIM69 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TRIM69 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TRIM69 were set to 22105173\nPhenotypes for gene: TRIM69 were set to Susceptibility to herpes simplex encephalitis\nReview for gene: TRIM69 was set to RED\nAdded comment: One individual with bi-allelic and one individual with mono-allelic variants in this gene described. \nSources: Expert list","entity_name":"TRIM69","entity_type":"gene"},{"created":"2020-06-12T18:19:54.824295+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM69 as ready","entity_name":"TRIM69","entity_type":"gene"},{"created":"2020-06-12T18:19:54.814798+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim69 has been classified as Red List (Low Evidence).","entity_name":"TRIM69","entity_type":"gene"},{"created":"2020-06-12T18:19:47.485959+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM69 was added\ngene: TRIM69 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: TRIM69 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TRIM69 were set to 22105173\nPhenotypes for gene: TRIM69 were set to Susceptibility to herpes simplex encephalitis\nReview for gene: TRIM69 was set to RED\nAdded comment: One individual with bi-allelic and one individual with mono-allelic variants in this gene described. \nSources: Expert list","entity_name":"TRIM69","entity_type":"gene"},{"created":"2020-06-12T15:11:09.207267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3050","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SLC6A1","entity_type":"gene"},{"created":"2020-06-12T14:29:20.303845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3050","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30992180, 27040688, 28709447; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"NEFH","entity_type":"gene"},{"created":"2020-06-12T14:17:56.023306+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.83","user_name":"chloe stutterd","item_type":"entity","text":"reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148, 15883926; Phenotypes: Polymicrogryia in Goldberg-Shprintzen megacolon syndrome MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-06-12T11:24:26.750292+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB4A as ready","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-12T11:24:26.738454+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4a has been classified as Green List (High Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-12T11:24:16.148496+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBB4A as Green List (high evidence)","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-12T11:24:16.138610+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4a has been classified as Green List (High Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-12T11:24:07.122085+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB4A was added\ngene: TUBB4A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB4A were set to 23582646; 24850488\nPhenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, MIM#\t612438\nReview for gene: TUBB4A was set to GREEN\nAdded comment: Complex neurological disorder with childhood onset, spasticity is a feature. \nSources: Expert list","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2020-06-12T11:18:57.233988+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RTN2 as ready","entity_name":"RTN2","entity_type":"gene"},{"created":"2020-06-12T11:18:57.222456+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rtn2 has been classified as Green List (High Evidence).","entity_name":"RTN2","entity_type":"gene"},{"created":"2020-06-12T11:18:53.296491+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RTN2 as Green List (high evidence)","entity_name":"RTN2","entity_type":"gene"},{"created":"2020-06-12T11:18:53.283213+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rtn2 has been classified as Green List (High Evidence).","entity_name":"RTN2","entity_type":"gene"},{"created":"2020-06-12T11:18:44.273792+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTN2 was added\ngene: RTN2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RTN2 were set to 22232211; 27165006\nPhenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant, MIM#\t604805\nReview for gene: RTN2 was set to GREEN\nAdded comment: At least 5 unrelated families reported. Variable age of onset from childhood to early adulthood. \nSources: Expert list","entity_name":"RTN2","entity_type":"gene"},{"created":"2020-06-12T11:00:38.337802+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPLA6 as ready","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-06-12T11:00:38.326888+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Amber List (Moderate Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-06-12T11:00:33.511162+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNPLA6 as Amber List (moderate evidence)","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-06-12T11:00:33.500481+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Amber List (Moderate Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-06-12T11:00:23.993900+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNPLA6 was added\ngene: PNPLA6 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to 18313024\nPhenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive, MIM#\t612020\nReview for gene: PNPLA6 was set to AMBER\nAdded comment: Bi-allelic variants cause a range of complex phenotypes, including ataxia, retinal dystrophy, spasticity and hypogonadotrophic hypogonadism. Symptom onset is generally in adulthood, although at least one family with onset of spasticity in childhood reported. \nSources: Expert list","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-06-12T10:48:23.889616+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA3 as ready","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-06-12T10:48:23.876794+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa3 has been classified as Green List (High Evidence).","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-06-12T10:48:20.512285+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OPA3 as Green List (high evidence)","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-06-12T10:48:20.500426+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa3 has been classified as Green List (High Evidence).","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-06-12T10:48:12.528564+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OPA3 was added\ngene: OPA3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, MIM#\t258501\nReview for gene: OPA3 was set to GREEN\nAdded comment: Onset of optic atrophy generally precedes other features including spasticity, which generally begins in the second decade. \nSources: Expert list","entity_name":"OPA3","entity_type":"gene"},{"created":"2020-06-12T10:41:31.092278+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP5Z1 as ready","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2020-06-12T10:41:31.071679+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap5z1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2020-06-12T10:41:27.505693+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP5Z1 as Amber List (moderate evidence)","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2020-06-12T10:41:27.494296+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap5z1 has been classified as Amber List (Moderate Evidence).","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2020-06-12T10:41:18.856359+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP5Z1 was added\ngene: AP5Z1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP5Z1 were set to 26085577\nPhenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive, MIM#\t613647\nReview for gene: AP5Z1 was set to AMBER\nAdded comment: Onset is generally in adulthood though at least one individual with childhood onset reported. \nSources: Expert list","entity_name":"AP5Z1","entity_type":"gene"},{"created":"2020-06-12T10:37:01.684723+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH18A1 as ready","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2020-06-12T10:37:01.659045+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh18a1 has been classified as Green List (High Evidence).","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2020-06-12T10:36:59.096690+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH18A1 were changed from Spastic paraplegia 9B, autosomal recessive, MIM#\t616586 to Spastic paraplegia 9B, autosomal recessive, MIM#\t616586; Spastic paraplegia 9A, autosomal dominant, MIM# 601162","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2020-06-12T10:36:44.493837+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH18A1 as Green List (high evidence)","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2020-06-12T10:36:44.482642+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh18a1 has been classified as Green List (High Evidence).","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2020-06-12T10:35:32.756138+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALDH18A1: Changed phenotypes: Spastic paraplegia 9B, autosomal recessive, MIM# 616586, Spastic paraplegia 9A, autosomal dominant, MIM# 601162","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2020-06-12T10:35:11.879369+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALDH18A1 were set to 26026163; 29915212\nPhenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, MIM#\t616586\nReview for gene: ALDH18A1 was set to GREEN\nAdded comment: At least four unrelated families reported with bi-allelic complex HSP, including microcephaly and ID. Mono-allelic variants are also associated with HSP (at least 15 patients from 3 families) but this tends to be with adult onset, although some childhood onset also reported. \nSources: Expert list","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2020-06-11T19:39:04.029861+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic variants and a VUS (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186). \r\nSources: Other; to: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with VUS and parkinsonism as a feature of the condition and a single family with multiple members with parkinsonism with pathogenic missense variant have been reported  (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186). \r\nSources: Other","entity_name":"PSEN2","entity_type":"gene"},{"created":"2020-06-11T19:34:24.571909+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic or probable pathogenic variants (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186). \nSources: Other; to: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic variants and a VUS (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186). \r\nSources: Other","entity_name":"PSEN2","entity_type":"gene"},{"created":"2020-06-11T19:26:34.449165+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSEN2 as ready","entity_name":"PSEN2","entity_type":"gene"},{"created":"2020-06-11T19:26:34.437991+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen2 has been classified as Red List (Low Evidence).","entity_name":"PSEN2","entity_type":"gene"},{"created":"2020-06-11T19:26:15.965694+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN2 was added\ngene: PSEN2 was added to Early-onset Parkinson disease. Sources: Other\nMode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN2 were set to 22118943; 26422362; 18427071; 29692703\nPhenotypes for gene: PSEN2 were set to Parkinsonism; Alzheimer disease-4 MIM#606889\nReview for gene: PSEN2 was set to RED\nAdded comment: Parkinson disease and parkinsonism is not a prominent feature of Alzheimer disease caused by PSEN2. A couple of isolated cases with parkinsonism as a feature of the condition and a single family have been reported with established pathogenic or probable pathogenic variants (PMID: 22118943, 26422362, 18427071). VUS or now likely benign/benign missense variants have been identified in a Parkinson Disease cases used in case-control studies (PMID: 29692703, 26522186). \nSources: Other","entity_name":"PSEN2","entity_type":"gene"}]}