{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1952","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1950","results":[{"created":"2020-01-31T20:49:32.332466+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA2D3 as ready","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:49:32.321210+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d3 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:49:24.200187+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA2D3 were set to ","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:48:48.176198+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA2D3 as Red List (low evidence)","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:48:48.166174+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d3 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:47:43.015558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA2D3 as ready","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:47:43.010627+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1100","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association.","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:47:42.958971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d3 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:47:26.955176+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA2D3: Rating: RED; Mode of pathogenicity: None; Publications: 31275518, 22542183, 23375656; Phenotypes: ; Mode of inheritance: None","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:46:22.602696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1100","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA2D3 were set to ","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:46:20.355892+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ST14 was added\ngene: ST14 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ST14 were set to 17273967; 18843291; 18445049; 30982314\nPhenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400\nReview for gene: ST14 was set to GREEN\nAdded comment: >3 families with biallelic variants reported. \nSources: Expert list","entity_name":"ST14","entity_type":"gene"},{"created":"2020-01-31T20:45:51.687508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1099","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA2D3 as Red List (low evidence)","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:45:51.675838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1099","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d3 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D3","entity_type":"gene"},{"created":"2020-01-31T20:42:28.558604+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1098","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSTA as ready","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:42:28.548452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1098","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csta has been classified as Green List (High Evidence).","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:42:14.565627+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1098","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSTA were changed from  to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:41:52.199084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1097","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSTA were set to ","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:41:28.260132+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1096","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSTA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:41:04.411346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1095","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944047, 23534700, 25400170; Phenotypes: Peeling skin syndrome 4 MIM#607936, exfoliative ichthyosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:40:05.286452+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSTA as ready","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:40:05.275587+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csta has been classified as Green List (High Evidence).","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:39:58.778910+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSTA as Green List (high evidence)","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:39:58.755121+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csta has been classified as Green List (High Evidence).","entity_name":"CSTA","entity_type":"gene"},{"created":"2020-01-31T20:38:57.322632+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDSN as ready","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:38:57.309819+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Green List (High Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:38:52.432485+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDSN were changed from  to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:38:19.616881+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDSN were set to ","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:37:41.271375+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:37:06.670497+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:36:19.118933+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1095","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDSN as ready","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:36:19.107994+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1095","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Green List (High Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:36:09.545613+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1095","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDSN were changed from  to Peeling skin syndrome 1 MIM#270300; ichthyosiform erythroderma","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:36:04.606722+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPINK5 was added\ngene: SPINK5 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPINK5 were set to 10712206; 15590704; 31977080\nPhenotypes for gene: SPINK5 were set to Netherton syndrome MIM#256500\nReview for gene: SPINK5 was set to GREEN\nAdded comment: Netherton syndrome is a severe autosomal recessive disorder characterised by congenital ichthyosis with defective cornification, a specific hair shaft defect ('bamboo hair'), and severe atopic manifestations. >3 families reported and an animal model recapitulating the phenotype. \nSources: Expert list","entity_name":"SPINK5","entity_type":"gene"},{"created":"2020-01-31T20:35:45.605064+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDSN were set to ","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:35:21.114116+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1093","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:35:00.923083+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24794518, 18436651, 20691404, 21191406; Phenotypes: Peeling skin syndrome 1 MIM#270300, ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:33:37.374925+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDSN as ready","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:33:37.364079+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Green List (High Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:33:23.585974+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDSN as Green List (high evidence)","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:33:23.562326+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdsn has been classified as Green List (High Evidence).","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-01-31T20:32:05.849919+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASP14 as ready","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:32:05.838600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp14 has been classified as Amber List (Moderate Evidence).","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:31:50.518840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP14 as Amber List (moderate evidence)","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:31:50.507926+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp14 has been classified as Amber List (Moderate Evidence).","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:31:28.407619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1091","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASP14 was added\ngene: CASP14 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP14 were set to 27494380; 23014340; 17515931\nPhenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320\nReview for gene: CASP14 was set to AMBER\nAdded comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features. \nSources: Expert Review","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:28:31.895657+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASP14 as ready","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:28:31.885299+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp14 has been classified as Amber List (Moderate Evidence).","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:28:04.459541+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP14 as Amber List (moderate evidence)","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:28:04.448276+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp14 has been classified as Amber List (Moderate Evidence).","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:27:37.323518+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP14 as Amber List (moderate evidence)","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:27:37.312810+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp14 has been classified as Amber List (Moderate Evidence).","entity_name":"CASP14","entity_type":"gene"},{"created":"2020-01-31T20:26:33.387755+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPE as ready","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:26:33.377109+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipe has been classified as Green List (High Evidence).","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:26:16.232198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPE as ready","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:26:16.221625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipe has been classified as Green List (High Evidence).","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:25:02.251717+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIPE as Green List (high evidence)","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:25:02.236692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipe has been classified as Green List (High Evidence).","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:24:11.547488+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIPE were changed from  to Lipodystrophy, familial partial, type 6, 615980","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:23:44.954390+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIPE were set to ","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:23:14.677450+11:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPE","entity_type":"gene"},{"created":"2020-01-31T20:21:00.374626+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH3A2 as ready","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:21:00.364385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Green List (High Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:20:50.969761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH3A2 were changed from  to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:20:25.468966+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH3A2 were set to ","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:20:00.668414+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:19:37.576216+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:19:07.304696+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC27A4 was added\ngene: SLC27A4 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A4 were set to 12697906; 19631310; 31168818\nPhenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome MIM#608649\nReview for gene: SLC27A4 was set to GREEN\nAdded comment: >3 families reported \nSources: Expert list","entity_name":"SLC27A4","entity_type":"gene"},{"created":"2020-01-31T20:18:49.768355+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1821","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH3A2 as ready","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:18:49.756434+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1821","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Green List (High Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:18:42.363151+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1821","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH3A2 were changed from  to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:18:10.569341+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH3A2 were set to ","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:17:33.500525+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1819","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH3A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:16:56.004624+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273323; Phenotypes: Sjogren-Larsson syndrome MIM#270200, spasticity, ichthyosis, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:16:14.610721+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH3A2 as ready","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:16:14.600077+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Green List (High Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:15:47.456393+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH3A2 as Green List (high evidence)","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:15:47.432433+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Green List (High Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2020-01-31T20:14:37.590629+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYT1L as ready","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T20:14:37.580150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myt1l has been classified as Green List (High Evidence).","entity_name":"MYT1L","entity_type":"gene"},{"created":"2020-01-31T20:14:28.356349+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABHD5 as ready","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:14:28.346119+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd5 has been classified as Green List (High Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:14:14.763719+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABHD5 were changed from  to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:13:41.386570+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1817","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABHD5 were set to ","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:13:05.750301+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1816","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:12:28.082905+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erythroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:11:49.302723+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABHD5 as ready","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:11:49.292642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd5 has been classified as Green List (High Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:11:36.528346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABHD5 were changed from  to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erythroderma","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:11:20.099667+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1085","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABHD5 were set to ","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:11:00.914195+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABHD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:10:41.956745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1083","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome MIM#275630, neutral lipid storage disease with ichthyosis, non-bullous congenital ichthyosiform erithroderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:09:13.273233+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABHD5 as ready","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:09:13.259031+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd5 has been classified as Green List (High Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:07:06.594639+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABHD5 as Green List (high evidence)","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:07:06.564085+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd5 has been classified as Green List (High Evidence).","entity_name":"ABHD5","entity_type":"gene"},{"created":"2020-01-31T20:05:13.780509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1083","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP6 as ready","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:05:13.769829+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp6 has been classified as Green List (High Evidence).","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:05:03.178155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1083","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBGCP6 were changed from  to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:04:47.578832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1082","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBGCP6 were set to ","entity_name":"TUBGCP6","entity_type":"gene"},{"created":"2020-01-31T20:04:28.218792+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERPINB8","entity_type":"gene"}]}