{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1880","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1878","results":[{"created":"2020-04-06T11:01:19.703603+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"gene: HTRA2 was added\ngene: HTRA2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HTRA2 were set to PMID: 27696117; 27208207\nPhenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248)\nPenetrance for gene: HTRA2 were set to unknown\nReview for gene: HTRA2 was set to GREEN\nAdded comment: Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117). \nSources: Literature","entity_name":"HTRA2","entity_type":"gene"},{"created":"2020-04-06T10:57:57.321064+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KCNQ2 was added\ngene: KCNQ2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNQ2 were set to 12742592\nPhenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7 MIM#613720\nReview for gene: KCNQ2 was set to RED\nAdded comment: Cannot find evidence that dystonia is a prominent feature of the condition. Single case reported with dystonic features from 2003 \nSources: Expert list","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-04-06T10:21:29.070119+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 8719678; Phenotypes: Hermansky-Pudlak syndrome 6 (614075); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS6","entity_type":"gene"},{"created":"2020-04-06T10:19:08.677646+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8719678; Phenotypes: Hermansky-Pudlak syndrome 4 (614073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2020-04-06T10:04:52.951674+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 8719678, 27058854; Phenotypes: Hermansky-Pudlak syndrome 1 (203300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2020-04-06T10:00:05.072334+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAVCR2 as ready","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T10:00:05.058940+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: havcr2 has been classified as Green List (High Evidence).","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:59:16.857752+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HAVCR2 as Green List (high evidence)","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:59:16.844402+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: havcr2 has been classified as Green List (High Evidence).","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:58:58.248375+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HAVCR2 was added\ngene: HAVCR2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAVCR2 were set to 30374066; 30792187\nPhenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM#\t618398\nReview for gene: HAVCR2 was set to GREEN\nAdded comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met). \nSources: Expert list","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:57:51.604884+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HAVCR2 as ready","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:57:51.594681+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: havcr2 has been classified as Green List (High Evidence).","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:57:38.269631+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HAVCR2 as Green List (high evidence)","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:57:38.260324+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: havcr2 has been classified as Green List (High Evidence).","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:57:05.800392+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HAVCR2 was added\ngene: HAVCR2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAVCR2 were set to 30374066; 30792187\nPhenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM#\t618398\nReview for gene: HAVCR2 was set to GREEN\nAdded comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met). \nSources: Expert list","entity_name":"HAVCR2","entity_type":"gene"},{"created":"2020-04-06T09:51:13.236984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM22 as ready","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:51:13.223673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim22 has been classified as Green List (High Evidence).","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:51:04.055736+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIM22 as Green List (high evidence)","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:51:04.042467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim22 has been classified as Green List (High Evidence).","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:50:45.692162+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1997","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM22 was added\ngene: TRIM22 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM22 were set to 26836588\nPhenotypes for gene: TRIM22 were set to Inflammatory bowel disease\nReview for gene: TRIM22 was set to GREEN\nAdded comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data. \nSources: Expert list","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:50:25.467091+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM22 as ready","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:50:25.454307+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim22 has been classified as Green List (High Evidence).","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:49:35.187992+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIM22 as Green List (high evidence)","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:49:35.178883+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim22 has been classified as Green List (High Evidence).","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:49:04.542286+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM22 was added\ngene: TRIM22 was added to Inflammatory bowel disease. Sources: Expert list\nMode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM22 were set to 26836588\nPhenotypes for gene: TRIM22 were set to Inflammatory bowel disease\nReview for gene: TRIM22 was set to GREEN\nAdded comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data. \nSources: Expert list","entity_name":"TRIM22","entity_type":"gene"},{"created":"2020-04-06T09:47:05.487856+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HACE1 as ready","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-04-06T09:47:05.478152+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hace1 has been classified as Amber List (Moderate Evidence).","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-04-06T09:47:00.360353+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HACE1 as Amber List (moderate evidence)","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-04-06T09:47:00.346496+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hace1 has been classified as Amber List (Moderate Evidence).","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-04-06T09:46:48.773912+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HACE1 was added\ngene: HACE1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HACE1 were set to 26424145; 26437029\nPhenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756\nReview for gene: HACE1 was set to AMBER\nAdded comment: Two families where 1/5 and 1/3 affected cases has dystonic movements as part of their phenotype, respectively (PMID: 26424145). Members of two out of four families have spasticity/dystonia features, with no further differentiation supplied (PMID: 26437029). \nSources: Expert list","entity_name":"HACE1","entity_type":"gene"},{"created":"2020-04-06T09:44:04.683849+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPI as ready","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:44:04.670325+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpi has been classified as Amber List (Moderate Evidence).","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:43:54.748861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPI as Amber List (moderate evidence)","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:43:54.739527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1996","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpi has been classified as Amber List (Moderate Evidence).","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:43:37.181715+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1995","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPI was added\ngene: ALPI was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALPI were set to 29567797\nPhenotypes for gene: ALPI were set to Inflammatory bowel disease\nReview for gene: ALPI was set to AMBER\nAdded comment: Two unrelated individuals, some functional data. \nSources: Expert list","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:43:20.993291+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPI as ready","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:43:20.979586+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpi has been classified as Amber List (Moderate Evidence).","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:42:17.366271+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPI as Amber List (moderate evidence)","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:42:17.353548+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpi has been classified as Amber List (Moderate Evidence).","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:41:46.902258+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPI was added\ngene: ALPI was added to Inflammatory bowel disease. Sources: Expert list\nMode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALPI were set to 29567797\nPhenotypes for gene: ALPI were set to Inflammatory bowel disease\nReview for gene: ALPI was set to AMBER\nAdded comment: Two unrelated individuals, some functional data. \nSources: Expert list","entity_name":"ALPI","entity_type":"gene"},{"created":"2020-04-06T09:38:12.936623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1994","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMG2 as ready","entity_name":"PSMG2","entity_type":"gene"},{"created":"2020-04-06T09:38:12.923225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1994","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmg2 has been classified as Red List (Low Evidence).","entity_name":"PSMG2","entity_type":"gene"},{"created":"2020-04-06T09:38:03.015472+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1994","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSMG2 was added\ngene: PSMG2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMG2 were set to 30664889\nPhenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy\nReview for gene: PSMG2 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list","entity_name":"PSMG2","entity_type":"gene"},{"created":"2020-04-06T09:36:39.407410+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMG2 as ready","entity_name":"PSMG2","entity_type":"gene"},{"created":"2020-04-06T09:36:39.394004+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmg2 has been classified as Red List (Low Evidence).","entity_name":"PSMG2","entity_type":"gene"},{"created":"2020-04-06T09:36:31.463281+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSMG2 was added\ngene: PSMG2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMG2 were set to 30664889\nPhenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy\nReview for gene: PSMG2 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list","entity_name":"PSMG2","entity_type":"gene"},{"created":"2020-04-06T09:27:17.737468+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1993","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRP1 as ready","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:27:17.727461+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1993","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp1 has been classified as Green List (High Evidence).","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:27:09.354154+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1993","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLRP1 were changed from  to Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Palmoplantar carcinoma, multiple self-healing, MIM# 615225; Recurrent respiratory papillomatosis","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:26:43.041546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1992","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLRP1 were set to ","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:26:22.205366+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1991","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLRP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:25:59.779149+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1990","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27965258, 31484767, 27662089; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388, Palmoplantar carcinoma, multiple self-healing 615225, Recurrent respiratory papillomatosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:24:52.927928+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRP1 as ready","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:24:52.914844+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp1 has been classified as Green List (High Evidence).","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:24:48.797280+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLRP1 as Green List (high evidence)","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:24:48.787995+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp1 has been classified as Green List (High Evidence).","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:23:51.397992+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NLRP1 was added\ngene: NLRP1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NLRP1 were set to 27965258; 31484767; 27662089\nPhenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis, MIM#\t617388; Palmoplantar carcinoma, multiple self-healing\t615225; Recurrent respiratory papillomatosis\nMode of pathogenicity for gene: NLRP1 was set to Other\nReview for gene: NLRP1 was set to GREEN\nAdded comment: Multiple phenotypes resulting from abnormal inflammatory response associated with this gene, both mono-allelic and bi-allelic, some gain-of-function (including bi-allelic).\r\nBi-allelic disease: single family with dyskeratosis, autoimmunity and arthritis and another family with bi-allelic GoF and recurrent respiratory papillomatosis phenotype\r\nMono-allelic disease: mostly pertains to the association with multiple self-healing palmoplantar carcinomas (MSPC). One consanguineous family in which a sister and brother with clinical features of MSPC as well as multiple discrete and semiconfluent lichenoid papules on the arms, legs, and lower trunk were homozygous for an in-frame deletion in the NLRP1 gene, and parents had milder skin defects. The clinical diagnosis in this family was familial keratosis lichenoides chronica (Nekam disease). \nSources: Expert list","entity_name":"NLRP1","entity_type":"gene"},{"created":"2020-04-06T09:05:14.183259+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP18 as ready","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T09:05:14.174620+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp18 has been classified as Green List (High Evidence).","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T09:04:45.318593+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP18 as Green List (high evidence)","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T09:04:45.304921+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp18 has been classified as Green List (High Evidence).","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T09:04:16.856884+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP18 was added\ngene: USP18 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP18 were set to 31940699; 27325888\nPhenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397\nReview for gene: USP18 was set to GREEN\nAdded comment: Three unrelated families reported. Note cryptic 3' deletion identified in one. \nSources: Expert list","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:56:40.115778+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two unrelated families reported. \nSources: Expert list; to: Three unrelated families reported. Note cryptic 3' deletion identified in one.\r\nSources: Expert list","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:53:19.606523+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP18: Changed rating: GREEN; Changed phenotypes: Pseudo-TORCH syndrome 2, MIM# 617397","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:53:05.237368+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP18 as ready","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:53:05.223828+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp18 has been classified as Green List (High Evidence).","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:52:38.052169+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP18 as Green List (high evidence)","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:52:38.043606+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp18 has been classified as Green List (High Evidence).","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:49:37.841946+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP18 as Amber List (moderate evidence)","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:49:37.827868+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp18 has been classified as Amber List (Moderate Evidence).","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T08:49:08.969425+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP18 was added\ngene: USP18 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP18 were set to 31940699; 27325888\nPhenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM#\t617397\nReview for gene: USP18 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert list","entity_name":"USP18","entity_type":"gene"},{"created":"2020-04-06T07:28:40.228164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1990","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLA1 as ready","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:28:40.215076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1990","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pola1 has been classified as Green List (High Evidence).","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:28:30.435986+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1990","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLA1 were changed from  to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220; Van Esch-O'Driscoll syndrome OMIM# 301030","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:28:16.863037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1989","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLA1 were set to ","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:28:02.659257+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1988","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:27:47.633643+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1987","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: POLA1.","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:27:31.123669+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1987","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220, Van Esch-O'Driscoll syndrome OMIM# 301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:24:28.568147+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: POLA1.","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:23:00.068326+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLA1 as ready","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:23:00.058742+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pola1 has been classified as Green List (High Evidence).","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:22:56.046939+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLA1 as Green List (high evidence)","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:22:56.038385+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pola1 has been classified as Green List (High Evidence).","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:22:26.455005+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLA1 was added\ngene: POLA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: POLA1 were set to 27019227\nPhenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#\t301220\nReview for gene: POLA1 was set to GREEN\nAdded comment: 12 unrelated families with same g.24744696A-G transition (NC_000023.10, g.24744696A-G) in intron 13 of the POLA1 gene, resulting the introduction of a novel exon (exon 13a) into the transcript. Two of the families shared the same haplotype, indicative of founder effect but rest thought to have arisen independently, including at least one de novo variant. \nSources: Expert list","entity_name":"POLA1","entity_type":"gene"},{"created":"2020-04-06T07:18:30.642762+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACP5 as ready","entity_name":"ACP5","entity_type":"gene"},{"created":"2020-04-06T07:18:30.633362+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acp5 has been classified as Green List (High Evidence).","entity_name":"ACP5","entity_type":"gene"},{"created":"2020-04-06T07:18:26.224099+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACP5 as Green List (high evidence)","entity_name":"ACP5","entity_type":"gene"},{"created":"2020-04-06T07:18:26.202648+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acp5 has been classified as Green List (High Evidence).","entity_name":"ACP5","entity_type":"gene"},{"created":"2020-04-06T07:17:57.348986+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACP5 was added\ngene: ACP5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACP5 were set to 26951490; 21217755; 26789720; 26346816\nPhenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, MIM#\t607944; Short stature; SLE, thrombocytopenia and autoimmune haemolytic anaemia; Possibly recurrent bacterial and viral infections\nReview for gene: ACP5 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"ACP5","entity_type":"gene"},{"created":"2020-04-06T07:13:49.006123+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFIH1 as Green List (high evidence)","entity_name":"IFIH1","entity_type":"gene"},{"created":"2020-04-06T07:13:48.997131+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifih1 has been classified as Green List (High Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2020-04-06T07:13:05.784566+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFIH1 as ready","entity_name":"IFIH1","entity_type":"gene"},{"created":"2020-04-06T07:13:05.771819+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifih1 has been classified as Red List (Low Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2020-04-06T07:12:52.239664+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFIH1 was added\ngene: IFIH1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#\t615846\nReview for gene: IFIH1 was set to GREEN\nAdded comment: Gain of function variants. \nSources: Expert list","entity_name":"IFIH1","entity_type":"gene"},{"created":"2020-04-05T21:11:41.379509+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAR as ready","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-04-05T21:11:41.357759+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Green List (High Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-04-05T21:11:37.802077+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAR as Green List (high evidence)","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-04-05T21:11:37.788854+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adar has been classified as Green List (High Evidence).","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-04-05T21:11:05.194072+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAR was added\ngene: ADAR was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM#\t615010\nReview for gene: ADAR was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"ADAR","entity_type":"gene"},{"created":"2020-04-05T21:09:39.790697+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMHD1 as ready","entity_name":"SAMHD1","entity_type":"gene"}]}