{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=903","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=901","results":[{"created":"2022-03-30T13:08:02.424185+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12308","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: afp has been classified as Amber List (Moderate Evidence).","entity_name":"AFP","entity_type":"gene"},{"created":"2022-03-30T13:06:29.734539+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12307","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EIF2B3 were changed from  to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2022-03-30T13:04:50.889134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12306","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EIF2B3 were set to ","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2022-03-30T13:03:16.312543+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12305","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2022-03-30T13:00:27.598379+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12304","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2022-03-30T13:00:12.565011+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12304","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: Glu143Lys found in 4  Israeli Bedouin families\r\n\r\n2 other unrelated families reported with 1 missense (LoF demosntrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD); to: Glu143Lys found in 4  Israeli Bedouin families\r\n\r\n2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD)","entity_name":"CA12","entity_type":"gene"},{"created":"2022-03-30T12:53:00.535027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12304","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2022-03-30T12:46:20.188565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12304","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AHCY as ready","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-03-30T12:46:20.171735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12304","user_name":"Elena Savva","item_type":"entity","text":"Gene: ahcy has been classified as Green List (High Evidence).","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-03-30T12:43:23.220339+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12304","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AHCY were changed from  to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-03-30T12:43:22.550604+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12304","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AHCY were set to ","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-03-30T12:40:55.534859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12303","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-03-30T12:22:00.434390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12302","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EIF2B1 as ready","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-03-30T12:22:00.420978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12302","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eif2b1 has been classified as Green List (High Evidence).","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-03-30T12:17:36.454691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12302","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AGL were changed from  to Glycogen storage disease IIIa and IIIb, MIM#232400","entity_name":"AGL","entity_type":"gene"},{"created":"2022-03-30T12:17:27.160938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12302","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AGL as ready","entity_name":"AGL","entity_type":"gene"},{"created":"2022-03-30T12:17:27.150167+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12302","user_name":"Elena Savva","item_type":"entity","text":"Gene: agl has been classified as Green List (High Evidence).","entity_name":"AGL","entity_type":"gene"},{"created":"2022-03-30T12:17:25.692852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12302","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGL","entity_type":"gene"},{"created":"2022-03-30T12:13:53.438885+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12301","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EIF2B1 were changed from  to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-03-30T12:00:59.823208+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12300","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EIF2B1 were set to ","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-03-30T11:59:59.388605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12299","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-03-30T11:59:37.445362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12298","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 26285592, 15776425, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380, ataxia, spasticity, optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-03-30T11:55:30.572380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12298","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-03-30T11:50:35.730445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12298","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EIF2AK3 as ready","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2022-03-30T11:50:35.717418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12298","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eif2ak3 has been classified as Green List (High Evidence).","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2022-03-30T11:44:22.784820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12298","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TIA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"TIA1","entity_type":"gene"},{"created":"2022-03-30T11:44:02.211325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12297","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TIA1 as Amber List (moderate evidence)","entity_name":"TIA1","entity_type":"gene"},{"created":"2022-03-30T11:44:02.194748+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tia1 has been classified as Amber List (Moderate Evidence).","entity_name":"TIA1","entity_type":"gene"},{"created":"2022-03-30T11:43:19.739056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12296","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGL","entity_type":"gene"},{"created":"2022-03-30T11:43:16.922004+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12296","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EIF2AK3 were changed from  to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus; epiphyseal dysplasia/osteopenia; hepatic/renal dysfunction; intellectual disability/developmental delay","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2022-03-30T11:43:16.331234+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12295","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29235362, 29886022, 29773329, 29699721, 29216908, 24659297, 29457785, 28817800, 23401021, 23401021; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133, Welander distal myopathy (MIM#604454); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"TIA1","entity_type":"gene"},{"created":"2022-03-30T11:42:11.278391+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12295","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EIF2AK3 were set to ","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2022-03-30T11:40:32.617883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12294","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EIF2AK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2022-03-30T11:40:12.036340+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THSD1 as ready","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:40:12.026350+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thsd1 has been classified as Amber List (Moderate Evidence).","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:40:00.983758+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12293","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THSD1 were changed from  to Aneurysm, intracranial berry, 12 , MIM# 618734","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:39:31.687696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12292","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: THSD1 were set to ","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:39:08.202046+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12291","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: THSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:38:37.382078+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THSD1 as Amber List (moderate evidence)","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:38:37.370768+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thsd1 has been classified as Amber List (Moderate Evidence).","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:38:15.375543+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12289","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THSD1: Changed publications: 27895300","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:37:55.492279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12289","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aneurysm, intracranial berry, 12 , MIM# 618734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-03-30T11:36:57.512584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12289","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EFNA4 as ready","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T11:36:57.500078+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12289","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: efna4 has been classified as Amber List (Moderate Evidence).","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T11:36:51.470903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12289","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183, 12960215, 16813601, 11997520, 20202148; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus, epiphyseal dysplasia/osteopenia, hepatic/renal dysfunction, intellectual disability/developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2022-03-30T11:34:42.242965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12289","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EFNA4 were changed from  to craniosynostosis MONDO:0015469","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T11:30:44.293860+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBMX as ready","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:30:44.282614+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbmx has been classified as Amber List (Moderate Evidence).","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:30:34.839136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBMX as Amber List (moderate evidence)","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:30:34.822813+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbmx has been classified as Amber List (Moderate Evidence).","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:30:16.942246+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12287","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBMX was added\ngene: RBMX was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBMX were set to 25256757; 34260915\nPhenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238\nReview for gene: RBMX was set to AMBER\nAdded comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data. \nSources: Expert Review","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:29:57.763217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4643","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBMX as ready","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:29:57.750975+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4643","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbmx has been classified as Amber List (Moderate Evidence).","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:29:25.644104+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4643","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBMX as Amber List (moderate evidence)","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:29:25.634199+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4643","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbmx has been classified as Amber List (Moderate Evidence).","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:24:46.342479+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4642","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBMX was added\ngene: RBMX was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBMX were set to 25256757; 34260915\nPhenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238\nReview for gene: RBMX was set to AMBER\nAdded comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data. \nSources: Expert Review","entity_name":"RBMX","entity_type":"gene"},{"created":"2022-03-30T11:14:24.032158+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.321","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AGK were set to 22415731; 25208612","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:14:07.661374+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12286","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EFNA4 were set to ","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T11:14:03.513318+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.321","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:13:43.160593+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.321","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:13:22.417125+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.320","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AGK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:13:02.585519+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.320","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AGK were changed from  to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:12:42.677108+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.320","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AGK were set to ","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:12:23.456656+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12285","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29693651, 33583041, 329228291, 33221824, 27545678; Phenotypes: Pre-implantation embryonic lethality 2 MIM#617234, Multi locus imprinting disturbance in offspring, Recurrent hydatiform mole; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PADI6","entity_type":"gene"},{"created":"2022-03-30T11:12:21.297279+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.320","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:12:14.444228+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.319","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AGK as ready","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:12:14.428815+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.319","user_name":"Elena Savva","item_type":"entity","text":"Gene: agk has been classified as Green List (High Evidence).","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:11:45.570575+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.319","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T11:09:56.362618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12285","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T11:05:25.650466+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12284","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PADI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866708, 22381266, 30763140; Phenotypes: Uncombable hair syndrome - MIM#191480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PADI3","entity_type":"gene"},{"created":"2022-03-30T10:54:32.741535+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12284","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66 - MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PACS2","entity_type":"gene"},{"created":"2022-03-30T10:53:11.379990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12284","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EHBP1 as ready","entity_name":"EHBP1","entity_type":"gene"},{"created":"2022-03-30T10:53:11.365515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12284","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ehbp1 has been classified as Red List (Low Evidence).","entity_name":"EHBP1","entity_type":"gene"},{"created":"2022-03-30T10:51:41.932039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12284","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: EHBP1 were changed from  to {Prostate cancer, hereditary, 12} MIM#611868","entity_name":"EHBP1","entity_type":"gene"},{"created":"2022-03-30T10:50:08.929503+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12283","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EHBP1 as Red List (low evidence)","entity_name":"EHBP1","entity_type":"gene"},{"created":"2022-03-30T10:50:08.917225+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12283","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ehbp1 has been classified as Red List (Low Evidence).","entity_name":"EHBP1","entity_type":"gene"},{"created":"2022-03-30T10:49:12.654204+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12282","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EHBP1: Rating: RED; Mode of pathogenicity: None; Publications: 18264098; Phenotypes: {Prostate cancer, hereditary, 12} MIM#611868; Mode of inheritance: None","entity_name":"EHBP1","entity_type":"gene"},{"created":"2022-03-30T10:47:11.555831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12282","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PABPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19080757, 33805441; Phenotypes: Oculopharyngeal muscular dystrophy - MIM#164300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PABPN1","entity_type":"gene"},{"created":"2022-03-30T10:40:00.866091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12282","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGK","entity_type":"gene"},{"created":"2022-03-30T10:39:37.666542+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12282","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EDNRB as ready","entity_name":"EDNRB","entity_type":"gene"},{"created":"2022-03-30T10:39:37.654589+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12282","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ednrb has been classified as Green List (High Evidence).","entity_name":"EDNRB","entity_type":"gene"},{"created":"2022-03-30T10:38:37.223700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12282","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EFNA4 as Amber List (moderate evidence)","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T10:38:37.200732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12282","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: efna4 has been classified as Amber List (Moderate Evidence).","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T10:37:50.536230+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12281","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFNA4","entity_type":"gene"},{"created":"2022-03-30T10:10:42.162766+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.319","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"P3H2","entity_type":"gene"},{"created":"2022-03-30T10:10:38.556527+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12281","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"P3H2","entity_type":"gene"},{"created":"2022-03-30T10:05:38.257437+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12281","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AFP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15280901, 18854864; Phenotypes: Alpha-fetoprotein deficiency MIM#615969, [Hereditary persistence of alpha-fetoprotein] MIM#615970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AFP","entity_type":"gene"},{"created":"2022-03-30T09:57:41.200996+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12281","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ADRB2 as ready","entity_name":"ADRB2","entity_type":"gene"},{"created":"2022-03-30T09:57:41.188799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12281","user_name":"Elena Savva","item_type":"entity","text":"Gene: adrb2 has been classified as Red List (Low Evidence).","entity_name":"ADRB2","entity_type":"gene"},{"created":"2022-03-30T09:56:07.969504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12281","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ADRB2 were changed from  to Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} MIM#600807; {Obesity, susceptibility to} MIM#601665","entity_name":"ADRB2","entity_type":"gene"},{"created":"2022-03-30T09:51:48.654896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12280","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ADRB2 were set to ","entity_name":"ADRB2","entity_type":"gene"},{"created":"2022-03-30T09:51:42.417795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12280","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ADRB2 as Red List (low evidence)","entity_name":"ADRB2","entity_type":"gene"},{"created":"2022-03-30T09:51:42.404330+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12280","user_name":"Elena Savva","item_type":"entity","text":"Gene: adrb2 has been classified as Red List (Low Evidence).","entity_name":"ADRB2","entity_type":"gene"},{"created":"2022-03-30T09:26:17.562636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12279","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THRB as ready","entity_name":"THRB","entity_type":"gene"},{"created":"2022-03-30T09:26:17.553280+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thrb has been classified as Green List (High Evidence).","entity_name":"THRB","entity_type":"gene"},{"created":"2022-03-30T09:25:44.317271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12279","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THRB were changed from  to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650","entity_name":"THRB","entity_type":"gene"},{"created":"2022-03-30T09:25:20.697440+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12278","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: THRB were set to ","entity_name":"THRB","entity_type":"gene"},{"created":"2022-03-30T09:24:59.154784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12277","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: THRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"THRB","entity_type":"gene"},{"created":"2022-03-30T09:24:39.558757+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 31590893; Phenotypes: Thyroid hormone resistance, MIM# 188570, Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, selective pituitary, MIM# 145650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"THRB","entity_type":"gene"},{"created":"2022-03-30T09:20:44.642882+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4641","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: WDR11 were changed from Neurodevelopmental disorder, MONDO:0700092, WDR11-related to Neurodevelopmental disorder, MONDO:0700092, WDR11-related","entity_name":"WDR11","entity_type":"gene"}]}