{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1675","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1673","results":[{"created":"2020-08-13T16:21:46.618041+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ebp has been classified as Red List (Low Evidence).","entity_name":"EBP","entity_type":"gene"},{"created":"2020-08-13T16:21:39.678591+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EBP was added\ngene: EBP was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: EBP was set to Other\nPublications for gene: EBP were set to 23137060\nPhenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM#\t302960\nReview for gene: EBP was set to RED\nAdded comment: XLD. Listed as a cause of hydrops in a review, cannot find reported cases. \nSources: Expert list","entity_name":"EBP","entity_type":"gene"},{"created":"2020-08-13T16:20:17.569190+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2020-08-13T16:20:17.559650+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Red List (Low Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2020-08-13T16:19:38.988208+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FH were set to 23137060\nPhenotypes for gene: FH were set to Fumarase deficiency, MIM#\t606812\nReview for gene: FH was set to RED\nAdded comment: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases. \nSources: Expert list","entity_name":"FH","entity_type":"gene"},{"created":"2020-08-13T15:03:28.330392+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGFR3 as ready","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-13T15:03:28.317579+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr3 has been classified as Green List (High Evidence).","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-13T15:03:23.736407+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGFR3 as Green List (high evidence)","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-13T15:03:23.728642+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr3 has been classified as Green List (High Evidence).","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-13T15:03:01.835894+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGFR3 was added\ngene: FGFR3 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR3 were set to 24075385\nPhenotypes for gene: FGFR3 were set to Thanatophoric dysplasia\nReview for gene: FGFR3 was set to GREEN\nAdded comment: Severe FGFR3-related disease can cause reduced fetal movements and hydrops. \nSources: Expert list","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-08-13T14:54:38.139350+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMPK as ready","entity_name":"DMPK","entity_type":"gene"},{"created":"2020-08-13T14:54:38.130876+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmpk has been classified as Green List (High Evidence).","entity_name":"DMPK","entity_type":"gene"},{"created":"2020-08-13T14:54:33.427982+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Tag STR tag was added to gene: DMPK.","entity_name":"DMPK","entity_type":"gene"},{"created":"2020-08-13T14:54:25.654961+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMPK as Green List (high evidence)","entity_name":"DMPK","entity_type":"gene"},{"created":"2020-08-13T14:54:25.646504+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmpk has been classified as Green List (High Evidence).","entity_name":"DMPK","entity_type":"gene"},{"created":"2020-08-13T14:54:03.672656+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DMPK was added\ngene: DMPK was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DMPK were set to 9134395\nPhenotypes for gene: DMPK were set to Myotonic dystrophy 1, MIM#\t160900\nReview for gene: DMPK was set to GREEN\nAdded comment: Reduced fetal movements and hydrops reported. Note triplet expansion may not be tractable depending on the assay used. \nSources: Expert list","entity_name":"DMPK","entity_type":"gene"},{"created":"2020-08-13T14:39:46.432886+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT3 as ready","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-13T14:39:46.424583+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt3 has been classified as Red List (Low Evidence).","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-13T14:39:39.305663+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AKT3 was added\ngene: AKT3 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT3 were set to 23754335\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM#\t615937\nReview for gene: AKT3 was set to RED\nAdded comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified. \nSources: Expert list","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-08-12T20:52:08.230698+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCAD1 as ready","entity_name":"SMARCAD1","entity_type":"gene"},{"created":"2020-08-12T20:52:08.220083+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcad1 has been classified as Amber List (Moderate Evidence).","entity_name":"SMARCAD1","entity_type":"gene"},{"created":"2020-08-12T20:52:02.831849+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCAD1 as Amber List (moderate evidence)","entity_name":"SMARCAD1","entity_type":"gene"},{"created":"2020-08-12T20:52:02.821983+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcad1 has been classified as Amber List (Moderate Evidence).","entity_name":"SMARCAD1","entity_type":"gene"},{"created":"2020-08-12T18:57:47.886639+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.41","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SMARCAD1 was added\ngene: SMARCAD1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SMARCAD1 were set to 26932190; 24664640\nPhenotypes for gene: SMARCAD1 were set to Basan syndrome (MIM#129200)\nReview for gene: SMARCAD1 was set to AMBER\ngene: SMARCAD1 was marked as current diagnostic\nAdded comment: Associated with Basan syndrome which can present with Palmoplantar Keratoderma although it is not a major feature.\r\n\r\nTwo families with Basan syndrome where some individuals have PPK are described in 26932190 and 24664640.\r\n\r\nAmber in PanelApp GEL \nSources: Literature","entity_name":"SMARCAD1","entity_type":"gene"},{"created":"2020-08-12T18:50:14.771342+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP29 as ready","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-12T18:50:14.733494+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-12T18:50:02.581205+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAP29 as Green List (high evidence)","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-12T18:50:02.570868+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-12T18:49:26.345130+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT16 as ready","entity_name":"KRT16","entity_type":"gene"},{"created":"2020-08-12T18:49:26.336277+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt16 has been classified as Green List (High Evidence).","entity_name":"KRT16","entity_type":"gene"},{"created":"2020-08-12T18:49:23.720188+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT16 were changed from  to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)","entity_name":"KRT16","entity_type":"gene"},{"created":"2020-08-12T18:48:58.334674+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT16 were set to ","entity_name":"KRT16","entity_type":"gene"},{"created":"2020-08-12T18:48:42.093765+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT16","entity_type":"gene"},{"created":"2020-08-12T18:48:06.943578+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT14 as ready","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-08-12T18:48:06.933893+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt14 has been classified as Green List (High Evidence).","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-08-12T18:48:03.953535+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT14 were changed from  to Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000); Dermatopathia pigmentosa reticularis (MIM#125595)","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-08-12T18:47:45.296169+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT14 were set to ","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-08-12T18:47:23.461128+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-08-12T18:46:24.136330+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JUP as ready","entity_name":"JUP","entity_type":"gene"},{"created":"2020-08-12T18:46:24.127696+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Green List (High Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2020-08-12T18:46:20.884644+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JUP were changed from  to Naxos disease (MIM#601214)","entity_name":"JUP","entity_type":"gene"},{"created":"2020-08-12T18:45:55.364281+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JUP were set to ","entity_name":"JUP","entity_type":"gene"},{"created":"2020-08-12T18:45:39.249393+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2020-08-12T18:44:51.659009+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3766","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KANK2 as ready","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:44:51.648261+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3766","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kank2 has been classified as Green List (High Evidence).","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:44:43.976751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3766","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KANK2 were changed from  to Palmoplantar keratoderma and woolly hair (MIM#616099); Nephrotic syndrome, type 16, MIM#617783","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:44:26.823607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3765","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KANK2 were set to ","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:44:10.400098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3764","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:43:53.951024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3763","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25961457, 24671081; Phenotypes: Palmoplantar keratoderma and woolly hair (MIM#616099), Nephrotic syndrome, type 16, MIM#617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:40:42.550644+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KANK2 as ready","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:40:42.541002+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kank2 has been classified as Red List (Low Evidence).","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:40:37.956748+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: KANK2.","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:40:31.723058+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KANK2 as Red List (low evidence)","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:40:31.712863+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kank2 has been classified as Red List (Low Evidence).","entity_name":"KANK2","entity_type":"gene"},{"created":"2020-08-12T18:39:12.761663+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB6 as ready","entity_name":"GJB6","entity_type":"gene"},{"created":"2020-08-12T18:39:12.738584+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb6 has been classified as Green List (High Evidence).","entity_name":"GJB6","entity_type":"gene"},{"created":"2020-08-12T18:39:10.261175+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB6 were changed from  to Ectodermal dysplasia 2, Clouston type (MIM# 129500)","entity_name":"GJB6","entity_type":"gene"},{"created":"2020-08-12T18:38:48.549149+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJB6 were set to ","entity_name":"GJB6","entity_type":"gene"},{"created":"2020-08-12T18:38:26.766607+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJB6","entity_type":"gene"},{"created":"2020-08-12T18:37:31.584692+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJA1 as ready","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-08-12T18:37:31.575675+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja1 has been classified as Green List (High Evidence).","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-08-12T18:37:29.418134+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJA1 were changed from  to Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100); Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-08-12T18:37:03.483366+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJA1 were set to ","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-08-12T18:36:41.016354+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA1","entity_type":"gene"},{"created":"2020-08-12T18:35:57.163928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3763","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM83G as ready","entity_name":"FAM83G","entity_type":"gene"},{"created":"2020-08-12T18:35:57.155603+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3763","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam83g has been classified as Red List (Low Evidence).","entity_name":"FAM83G","entity_type":"gene"},{"created":"2020-08-12T18:35:46.906852+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3763","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAM83G was added\ngene: FAM83G was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM83G were set to 29138053\nPhenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy\nReview for gene: FAM83G was set to RED\nAdded comment: PMID: 29138053; - 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair - progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years > homozygous for a missense p.(Ala34Glu) \nSources: Expert list","entity_name":"FAM83G","entity_type":"gene"},{"created":"2020-08-12T18:34:21.551327+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM83G as ready","entity_name":"FAM83G","entity_type":"gene"},{"created":"2020-08-12T18:34:21.540322+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam83g has been classified as Red List (Low Evidence).","entity_name":"FAM83G","entity_type":"gene"},{"created":"2020-08-12T18:34:16.818394+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM83G as Red List (low evidence)","entity_name":"FAM83G","entity_type":"gene"},{"created":"2020-08-12T18:34:16.809957+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam83g has been classified as Red List (Low Evidence).","entity_name":"FAM83G","entity_type":"gene"},{"created":"2020-08-12T18:32:33.322686+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENPP1 as ready","entity_name":"ENPP1","entity_type":"gene"},{"created":"2020-08-12T18:32:33.311312+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: enpp1 has been classified as Green List (High Evidence).","entity_name":"ENPP1","entity_type":"gene"},{"created":"2020-08-12T18:32:30.061255+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ENPP1 were changed from  to Cole disease (MIM#615522)","entity_name":"ENPP1","entity_type":"gene"},{"created":"2020-08-12T18:32:05.987528+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ENPP1 were set to ","entity_name":"ENPP1","entity_type":"gene"},{"created":"2020-08-12T18:31:40.198085+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ENPP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ENPP1","entity_type":"gene"},{"created":"2020-08-12T18:30:48.458542+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELOVL4 as ready","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-12T18:30:48.450169+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl4 has been classified as Green List (High Evidence).","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-12T18:30:43.235713+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ELOVL4 as Green List (high evidence)","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-12T18:30:43.225596+10:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl4 has been classified as Green List (High Evidence).","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2020-08-12T18:29:58.906383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3762","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LONP2 as ready","entity_name":"LONP2","entity_type":"gene"},{"created":"2020-08-12T18:29:58.896356+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3762","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp2 has been classified as Red List (Low Evidence).","entity_name":"LONP2","entity_type":"gene"},{"created":"2020-08-12T18:29:49.577668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3762","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LONP2 as Red List (low evidence)","entity_name":"LONP2","entity_type":"gene"},{"created":"2020-08-12T18:29:49.568774+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3762","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp2 has been classified as Red List (Low Evidence).","entity_name":"LONP2","entity_type":"gene"},{"created":"2020-08-12T18:28:40.109434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3761","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAST as ready","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:28:40.099803+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cast has been classified as Green List (High Evidence).","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:28:32.403223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3761","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAST were changed from  to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:28:16.144456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3760","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAST were set to ","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:27:58.893109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3759","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:27:33.764399+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3758","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:26:23.332993+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAST as ready","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:26:23.322536+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cast has been classified as Green List (High Evidence).","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:26:20.933545+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAST were changed from  to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:26:00.569852+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAST were set to ","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:24:40.613249+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAST","entity_type":"gene"},{"created":"2020-08-12T18:23:40.054487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3758","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARD14 as ready","entity_name":"CARD14","entity_type":"gene"},{"created":"2020-08-12T18:23:40.039604+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3758","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: card14 has been classified as Green List (High Evidence).","entity_name":"CARD14","entity_type":"gene"},{"created":"2020-08-12T18:23:32.901442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3758","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CARD14 were changed from  to Pityriasis rubra pilaris (MIM#173200)","entity_name":"CARD14","entity_type":"gene"},{"created":"2020-08-12T18:23:15.995125+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3757","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CARD14 were set to ","entity_name":"CARD14","entity_type":"gene"},{"created":"2020-08-12T18:22:59.420985+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3756","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CARD14","entity_type":"gene"}]}