{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1736","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1734","results":[{"created":"2020-07-11T15:48:15.516612+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EIF2S3: Rating: RED; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2020-07-11T15:37:09.609357+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EBP were set to 21634086","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:36:46.940182+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EBP: Changed publications: 21634086, 24704792","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:32:53.951883+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EBP as ready","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:32:53.945219+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ebp has been classified as Green List (High Evidence).","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:32:51.150646+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EBP were changed from  to Chondrodysplasia punctata, X-linked dominant, MIM# 302960","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:32:29.965056+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EBP were set to ","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:32:04.339373+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EBP was changed from Unknown to Other","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:31:41.575283+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21634086; Phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960; Mode of inheritance: Other","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-11T15:23:18.055365+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC1H1 as ready","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-07-11T15:23:18.048432+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync1h1 has been classified as Green List (High Evidence).","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-07-11T15:23:12.372828+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DYNC1H1 as Green List (high evidence)","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-07-11T15:23:12.363233+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync1h1 has been classified as Green List (High Evidence).","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-07-11T15:22:49.636883+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DYNC1H1 was added\ngene: DYNC1H1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYNC1H1 were set to 25609763; 25512093; 28554554\nPhenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease, axonal, type 20, MIM#\t614228; Mental retardation, autosomal dominant 13, MIM#\t614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM#\t158600\nReview for gene: DYNC1H1 was set to GREEN\nAdded comment: Phenotypes associated with DYNC1H1 range from spinal muscular atrophy (SMA), hereditary motor and sensory neuropathy (HMSN), cortical malformations, or a combination of these. Multiple families reported where arthrogryposis is a prominent feature. \nSources: Expert list","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2020-07-11T15:17:11.228916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM2 as ready","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:17:11.217760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:17:05.399766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM2 were changed from  to Congenital disorder of glycosylation, type Iu, MIM# 615042","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:16:44.720031+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to ","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:16:25.263173+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3293","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:16:10.629492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3292","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Amber List (moderate evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:16:10.621214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:15:55.891482+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3291","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM# 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:15:11.764031+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM2 as ready","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:15:11.753810+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:15:09.389697+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM2 were changed from  to Congenital disorder of glycosylation, type Iu, MIM# 615042","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:14:47.595870+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to ","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:14:25.150978+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:14:05.857606+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Amber List (moderate evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:14:05.848089+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T15:13:41.615926+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM# 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:51:23.107811+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM2 as ready","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:51:23.098036+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:48:02.620282+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM2 were changed from  to Congenital disorder of glycosylation, type Iu, MIM#615042","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:42:55.547899+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to ","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:42:38.572183+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:42:22.429474+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Amber List (moderate evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:42:22.419588+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:41:59.130741+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM#615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:40:33.741683+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM2 as ready","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:40:33.733949+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:40:30.811615+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM2 were changed from  to Congenital disorder of glycosylation, type Iu, MIM# 615042","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:40:09.088311+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM2 were set to ","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:39:47.443409+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:38:20.133311+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPM2 as Amber List (moderate evidence)","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:38:20.126618+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:37:58.868076+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23109149; Phenotypes: Congenital disorder of glycosylation, type Iu, MIM# 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM2","entity_type":"gene"},{"created":"2020-07-11T14:25:48.626461+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPAGT1 as ready","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-07-11T14:25:48.619744+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-07-11T14:25:44.619763+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPAGT1 as Green List (high evidence)","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-07-11T14:25:44.613172+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-07-11T14:25:20.865088+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DPAGT1 was added\ngene: DPAGT1 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPAGT1 were set to 26033833; 22786653; 30653653; 22492991\nPhenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13, with tubular aggregates 614750\nReview for gene: DPAGT1 was set to GREEN\nAdded comment: Fetal akinesia and AMC. \nSources: Expert list","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-07-11T14:21:16.629603+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR24 as ready","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-11T14:21:16.619101+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr24 has been classified as Green List (High Evidence).","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-11T14:21:13.094217+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHCR24 as Green List (high evidence)","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-11T14:21:13.084781+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr24 has been classified as Green List (High Evidence).","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-11T14:20:48.269396+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DHCR24 was added\ngene: DHCR24 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR24 were set to 21671375; 12457401; 29175559; 21559050\nPhenotypes for gene: DHCR24 were set to Desmosterolosis, MIM# 602398\nReview for gene: DHCR24 was set to GREEN\nAdded comment: At least 4 families reported where contractures are a feature of the condition. \nSources: Expert list","entity_name":"DHCR24","entity_type":"gene"},{"created":"2020-07-11T14:18:03.398496+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCX as ready","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T14:18:03.391201+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcx has been classified as Red List (Low Evidence).","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T14:18:01.271913+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCX were changed from  to Lissencephaly, X-linked, MIM# 300067","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T14:17:40.818739+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCX were set to ","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T14:17:19.980101+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T14:16:58.873072+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCX as Red List (low evidence)","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T14:16:58.863125+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcx has been classified as Red List (Low Evidence).","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T14:16:36.177517+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: 20301364; Phenotypes: Lissencephaly, X-linked, MIM# 300067; Mode of inheritance: None","entity_name":"DCX","entity_type":"gene"},{"created":"2020-07-11T13:06:36.348640+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COASY as Amber List (moderate evidence)","entity_name":"COASY","entity_type":"gene"},{"created":"2020-07-11T13:06:36.338154+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coasy has been classified as Amber List (Moderate Evidence).","entity_name":"COASY","entity_type":"gene"},{"created":"2020-07-11T13:05:52.711552+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COASY as ready","entity_name":"COASY","entity_type":"gene"},{"created":"2020-07-11T13:05:52.699980+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coasy has been classified as Amber List (Moderate Evidence).","entity_name":"COASY","entity_type":"gene"},{"created":"2020-07-11T13:05:37.660669+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COASY as Amber List (moderate evidence)","entity_name":"COASY","entity_type":"gene"},{"created":"2020-07-11T13:05:37.654310+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coasy has been classified as Amber List (Moderate Evidence).","entity_name":"COASY","entity_type":"gene"},{"created":"2020-07-11T13:05:17.053018+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COASY was added\ngene: COASY was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COASY were set to 30089828\nPhenotypes for gene: COASY were set to Pontocerebellar hypoplasia; microcephaly; arthrogryposis\nReview for gene: COASY was set to AMBER\nAdded comment: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA. \nSources: Expert list","entity_name":"COASY","entity_type":"gene"},{"created":"2020-07-11T12:22:16.496384+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASK as ready","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T12:22:16.489183+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cask has been classified as Red List (Low Evidence).","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T12:22:14.417792+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASK were changed from  to FG syndrome 4, MIM# 300422; Mental retardation, with or without nystagmus, MIM# 300422","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T12:21:53.929528+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASK were set to ","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T12:21:32.092672+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T12:21:12.130413+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASK as Red List (low evidence)","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T12:21:12.123483+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cask has been classified as Red List (Low Evidence).","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T12:20:50.487843+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: 24278995; Phenotypes: FG syndrome 4, MIM# 300422, Mental retardation, with or without nystagmus, MIM# 300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CASK","entity_type":"gene"},{"created":"2020-07-11T10:48:15.135167+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATRX as ready","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:48:15.127080+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Amber List (Moderate Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:48:12.690482+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from  to Alpha-thalassemia/mental retardation syndrome, MIM# 301040","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:47:51.328288+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATRX were set to ","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:47:30.148955+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:47:09.206589+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATRX as Amber List (moderate evidence)","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:47:09.199804+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Amber List (Moderate Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:46:33.355837+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301622; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-11T10:42:46.374282+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP1A2 as Green List (high evidence)","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:42:46.364823+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Green List (High Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:42:24.402709+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes. \nSources: Expert list; to: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Mouse model is perinatal lethal. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes. \r\nSources: Expert list","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:42:09.367711+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP1A2: Changed rating: GREEN","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:41:38.925574+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A2 as ready","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:41:38.917858+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:40:56.248756+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP1A2 as Amber List (moderate evidence)","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:40:56.239362+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a2 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:40:33.731029+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP1A2 was added\ngene: ATP1A2 was added to Arthrogryposis. Sources: Expert list\nMode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP1A2 were set to 30690204\nPhenotypes for gene: ATP1A2 were set to hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency\nReview for gene: ATP1A2 was set to AMBER\nAdded comment: 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found on WES. Note mono allelic variants in this gene cause alternating hemiplegia/migraine phenotypes. \nSources: Expert list","entity_name":"ATP1A2","entity_type":"gene"},{"created":"2020-07-11T10:35:00.913684+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATAD1 as ready","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-07-11T10:35:00.903026+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-07-11T10:34:56.796546+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATAD1 as Amber List (moderate evidence)","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-07-11T10:34:56.789997+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATAD1","entity_type":"gene"}]}