{"count":220437,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1517","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1515","results":[{"created":"2020-11-02T13:36:58.786950+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIRREL1 was added\ngene: KIRREL1 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: KIRREL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIRREL1 were set to 31472902\nPhenotypes for gene: KIRREL1 were set to Steroid-resistant nephrotic syndrome\nReview for gene: KIRREL1 was set to AMBER\nAdded comment: Two unrelated families reported with bi-allelic variants and limited functional data. \nSources: Literature","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:22:07.104412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFRA1 as ready","entity_name":"GFRA1","entity_type":"gene"},{"created":"2020-11-02T13:22:07.093884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfra1 has been classified as Amber List (Moderate Evidence).","entity_name":"GFRA1","entity_type":"gene"},{"created":"2020-11-02T13:21:59.057660+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5237","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GFRA1 as Amber List (moderate evidence)","entity_name":"GFRA1","entity_type":"gene"},{"created":"2020-11-02T13:21:59.047645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfra1 has been classified as Amber List (Moderate Evidence).","entity_name":"GFRA1","entity_type":"gene"},{"created":"2020-11-02T13:21:43.314477+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5236","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFRA1 was added\ngene: GFRA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFRA1 were set to 33020172\nPhenotypes for gene: GFRA1 were set to Renal agenesis\nReview for gene: GFRA1 was set to AMBER\nAdded comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. \nSources: Literature","entity_name":"GFRA1","entity_type":"gene"},{"created":"2020-11-02T12:49:13.234348+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5235","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33057194; Phenotypes: Developmental disorder, sinus node dysfunction and atrioventricular block; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB2","entity_type":"gene"},{"created":"2020-11-02T12:39:02.932478+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5235","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GIGYF1 as ready","entity_name":"GIGYF1","entity_type":"gene"},{"created":"2020-11-02T12:39:02.923719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5235","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gigyf1 has been classified as Amber List (Moderate Evidence).","entity_name":"GIGYF1","entity_type":"gene"},{"created":"2020-11-02T12:38:52.746749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5235","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GIGYF1 as Amber List (moderate evidence)","entity_name":"GIGYF1","entity_type":"gene"},{"created":"2020-11-02T12:38:52.727781+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5235","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gigyf1 has been classified as Amber List (Moderate Evidence).","entity_name":"GIGYF1","entity_type":"gene"},{"created":"2020-11-02T12:38:15.624899+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5234","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GIGYF1 was added\ngene: GIGYF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GIGYF1 were set to 33057194\nPhenotypes for gene: GIGYF1 were set to Developmental disorder\nReview for gene: GIGYF1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 14 de novo variants (4 frameshift, 5 missense, 1 splice donor, 3 stopgain, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \nSources: Literature","entity_name":"GIGYF1","entity_type":"gene"},{"created":"2020-11-02T12:33:20.609781+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5233","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FBXW7 as ready","entity_name":"FBXW7","entity_type":"gene"},{"created":"2020-11-02T12:33:20.597796+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5233","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fbxw7 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXW7","entity_type":"gene"},{"created":"2020-11-02T12:32:54.547835+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5233","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FBXW7 as Amber List (moderate evidence)","entity_name":"FBXW7","entity_type":"gene"},{"created":"2020-11-02T12:32:54.527244+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5233","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fbxw7 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXW7","entity_type":"gene"},{"created":"2020-11-02T12:32:31.351792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5232","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBXW7 was added\ngene: FBXW7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXW7 were set to 33057194\nPhenotypes for gene: FBXW7 were set to Developmental disorder\nReview for gene: FBXW7 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 12 de novo missense and 1 de novo synonymous variant identified in ~10,000 cases with developmental disorders (no other phenotype info provided) \nSources: Literature","entity_name":"FBXW7","entity_type":"gene"},{"created":"2020-11-02T10:05:02.532262+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCS1L as ready","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-11-02T10:05:02.521723+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Green List (High Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-11-02T10:04:58.935886+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCS1L as Green List (high evidence)","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-11-02T10:04:58.927814+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Green List (High Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-11-02T10:04:51.798722+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCS1L was added\ngene: BCS1L was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCS1L were set to 12910490; 12215968; 21274865\nPhenotypes for gene: BCS1L were set to GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#124000\nReview for gene: BCS1L was set to GREEN\nAdded comment: The two phenotypes pertinent to this panel are a Leigh-like syndrome; and growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death (GRACILE syndrome). Mitochondrial hepatopathy. \nSources: Expert list","entity_name":"BCS1L","entity_type":"gene"},{"created":"2020-11-02T09:56:53.351118+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG2 as ready","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-11-02T09:56:53.342980+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg2 has been classified as Amber List (Moderate Evidence).","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-11-02T09:56:49.813458+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLG2 as Amber List (moderate evidence)","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-11-02T09:56:49.803067+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg2 has been classified as Amber List (Moderate Evidence).","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-11-02T09:56:41.215407+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLG2 was added\ngene: POLG2 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLG2 were set to 27592148; 30157269; 21555342\nPhenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM#\t618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4\t610131\nReview for gene: POLG2 was set to AMBER\nAdded comment: Single family reported with bi-allelic variants in POLG2 and severe neonatal hepatic failure, some functional data to support variant pathogenicity. Note mono-allelic variants in this gene are associated with PEO phenotype, but onset and severity are highly variable including reports of childhood manifestations with liver dysfunction. \nSources: Expert list","entity_name":"POLG2","entity_type":"gene"},{"created":"2020-11-02T09:38:34.724006+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SH2D1A as ready","entity_name":"SH2D1A","entity_type":"gene"},{"created":"2020-11-02T09:38:34.710231+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sh2d1a has been classified as Green List (High Evidence).","entity_name":"SH2D1A","entity_type":"gene"},{"created":"2020-11-02T09:38:30.381816+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SH2D1A as Green List (high evidence)","entity_name":"SH2D1A","entity_type":"gene"},{"created":"2020-11-02T09:38:30.370139+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sh2d1a has been classified as Green List (High Evidence).","entity_name":"SH2D1A","entity_type":"gene"},{"created":"2020-11-02T09:38:20.837254+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH2D1A was added\ngene: SH2D1A was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SH2D1A were set to 6306053; 9771704\nPhenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, MIM#\t308240\nReview for gene: SH2D1A was set to GREEN\nAdded comment: A primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis. Liver dysfunction, hepatic necrosis and liver failure reported. \nSources: Expert list","entity_name":"SH2D1A","entity_type":"gene"},{"created":"2020-11-02T09:34:15.789225+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:33:42.193204+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3129","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TKFC: Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Developmental delay, cataracts, liver dysfunction","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:33:21.004500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:32:57.960073+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TKFC: Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Developmental delay, cataracts, liver dysfunction","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:32:36.507249+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TKFC: Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Developmental delay, cataracts, liver dysfunction","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:32:25.298934+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:31:43.151229+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TKFC as ready","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:31:43.144029+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkfc has been classified as Amber List (Moderate Evidence).","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:31:38.564010+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TKFC as Amber List (moderate evidence)","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:31:38.550222+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tkfc has been classified as Amber List (Moderate Evidence).","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T09:31:31.136787+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TKFC was added\ngene: TKFC was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKFC were set to 32004446\nPhenotypes for gene: TKFC were set to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction\nReview for gene: TKFC was set to AMBER\nAdded comment: Two unrelated families reported. Liver dysfunction, including liver failure in one. \nSources: Expert list","entity_name":"TKFC","entity_type":"gene"},{"created":"2020-11-02T08:03:58.887362+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6AP1 as ready","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2020-11-02T08:03:58.875217+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6ap1 has been classified as Green List (High Evidence).","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2020-11-02T08:03:54.257975+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6AP1 as Green List (high evidence)","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2020-11-02T08:03:54.235463+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6ap1 has been classified as Green List (High Evidence).","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2020-11-02T08:03:46.485384+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP6AP1 was added\ngene: ATP6AP1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP6AP1 were set to 27231034; 32216104; 32058063; 29192153\nPhenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#\t300972\nReview for gene: ATP6AP1 was set to GREEN\nAdded comment: X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Liver failure reported. \nSources: Expert list","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2020-11-02T08:00:05.523716+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL18BP as ready","entity_name":"IL18BP","entity_type":"gene"},{"created":"2020-11-02T08:00:05.510835+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il18bp has been classified as Red List (Low Evidence).","entity_name":"IL18BP","entity_type":"gene"},{"created":"2020-11-02T07:59:49.887779+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL18BP was added\ngene: IL18BP was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL18BP were set to 31213488\nPhenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to}\t618549\nReview for gene: IL18BP was set to RED\nAdded comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis. \nSources: Expert list","entity_name":"IL18BP","entity_type":"gene"},{"created":"2020-11-02T07:54:32.992877+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKAR1B as ready","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:54:32.984777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1b has been classified as Green List (High Evidence).","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:54:23.591988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKAR1B as Green List (high evidence)","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:54:23.581123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1b has been classified as Green List (High Evidence).","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:53:05.981441+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKAR1B as ready","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:53:05.973727+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1b has been classified as Green List (High Evidence).","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:53:01.428019+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKAR1B as Green List (high evidence)","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:53:01.417140+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1b has been classified as Green List (High Evidence).","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T07:50:48.807249+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFAM as ready","entity_name":"TFAM","entity_type":"gene"},{"created":"2020-11-02T07:50:48.797667+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfam has been classified as Amber List (Moderate Evidence).","entity_name":"TFAM","entity_type":"gene"},{"created":"2020-11-02T07:50:45.117582+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFAM as Amber List (moderate evidence)","entity_name":"TFAM","entity_type":"gene"},{"created":"2020-11-02T07:50:45.102493+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfam has been classified as Amber List (Moderate Evidence).","entity_name":"TFAM","entity_type":"gene"},{"created":"2020-11-02T07:50:36.529126+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TFAM was added\ngene: TFAM was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFAM were set to 27448789; 29021295; 9500544\nPhenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156\nReview for gene: TFAM was set to AMBER\nAdded comment: Two sibs from one consanguineous family presenting with severe progressive liver disease and segregating a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation. \nSources: Expert list","entity_name":"TFAM","entity_type":"gene"},{"created":"2020-11-02T07:45:28.958690+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ2 as ready","entity_name":"COQ2","entity_type":"gene"},{"created":"2020-11-02T07:45:28.946611+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq2 has been classified as Red List (Low Evidence).","entity_name":"COQ2","entity_type":"gene"},{"created":"2020-11-02T07:45:21.944361+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COQ2 was added\ngene: COQ2 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ2 were set to 17332895\nPhenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#607426\nReview for gene: COQ2 was set to RED\nAdded comment: Manifestations of this disorder are principally encephalomyopathic and renal, however at least one report of liver failure. \nSources: Expert list","entity_name":"COQ2","entity_type":"gene"},{"created":"2020-11-02T06:54:26.115431+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERAC1 as ready","entity_name":"SERAC1","entity_type":"gene"},{"created":"2020-11-02T06:54:26.104901+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serac1 has been classified as Green List (High Evidence).","entity_name":"SERAC1","entity_type":"gene"},{"created":"2020-11-02T06:54:22.696215+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERAC1 as Green List (high evidence)","entity_name":"SERAC1","entity_type":"gene"},{"created":"2020-11-02T06:54:22.685736+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serac1 has been classified as Green List (High Evidence).","entity_name":"SERAC1","entity_type":"gene"},{"created":"2020-11-02T06:54:14.792998+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERAC1 was added\ngene: SERAC1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERAC1 were set to 29205472\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM#\t614739\nReview for gene: SERAC1 was set to GREEN\nAdded comment: Autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. About 50% develop severe, but transient, liver dysfunction and/or signs of liver failure, in the neonatal period or during the first year of life.\r\n\r\nMore than 50 unrelated families reported. \nSources: Expert list","entity_name":"SERAC1","entity_type":"gene"},{"created":"2020-11-02T06:50:34.777561+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCD3 as ready","entity_name":"ABCD3","entity_type":"gene"},{"created":"2020-11-02T06:50:34.766964+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd3 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCD3","entity_type":"gene"},{"created":"2020-11-02T06:50:29.336514+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCD3 as Amber List (moderate evidence)","entity_name":"ABCD3","entity_type":"gene"},{"created":"2020-11-02T06:50:29.325162+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd3 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCD3","entity_type":"gene"},{"created":"2020-11-02T06:50:20.217227+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCD3 was added\ngene: ABCD3 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: ABCD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCD3 were set to 25168382\nPhenotypes for gene: ABCD3 were set to Bile acid synthesis defect, congenital, 5 (MIM#616278)\nReview for gene: ABCD3 was set to AMBER\nAdded comment: Single individual reported in 2015. Evidence of a bile acid biosynthesis defect in both the affected individual and knock out mice. \nSources: Expert list","entity_name":"ABCD3","entity_type":"gene"},{"created":"2020-11-02T02:22:05.132616+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3128","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"edited their review of gene: PRKAR1B: Changed publications: https://doi.org/10.1101/2020.09.10.20190314, 25414040","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T02:21:13.662563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5229","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: PRKAR1B was added\ngene: PRKAR1B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 25414040\nPhenotypes for gene: PRKAR1B were set to Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure\nPenetrance for gene: PRKAR1B were set to unknown\nReview for gene: PRKAR1B was set to AMBER\nAdded comment: Please consider inclusion of this gene with amber rating pending publication of the preprint and/or additional evidence.\r\n\r\nMarbach et al. (2020 - medRxiv : https://doi.org/10.1101/2020.09.10.20190314 - last author : C. Schaaf) report 6 unrelated individuals with heterozygous missense PRKAR1B variants.\r\n\r\nAll presented formal ASD diagnosis (6/6), global developmental delay (6/6) and intellectual disability (all - formal evaluations were lacking though). Additional features included neurologic anomalies (movement disorders : dyspraxia, apraxia, clumsiness in all, with tremor/dystonia or involuntary movements as single occurrences). Three displayed high pain tolerance. Regression in speech was a feature in two. Additional behavior anomalies included ADHD (4-5/6) or aggression (3/6). There was no consistent pattern of malformations, physical anomalies or facial features (with the exception of uplsanted palpebral fissures reported in 4).\r\n\r\n3 different missense variants were identified (NM_00116470:c.1003C>T - p.Arg335Trp, c.586G>A - p.Glu196Lys, c.500_501delAAinsTT - p.Gln167Leu) with Arg355Trp being a recurrent one within this cohort (4/6 subjects). A possible splicing effect may apply for the MNV. All variants are absent from gnomAD and the SNVs had CADD scores > 24.\r\n\r\nIn all cases were parental samples were available (5/6), the variant had occurred as a de novo event.\r\n\r\nProtein kinase A (PKA) is a tetrameric holoenzyme formed by the association of 2 catalytic (C) subunits with a regulatory (R) subunit dimer. Activation of PKA is achieved through binding of 2 cAMP molecules to each R-subunit, and unleashing(/dissociation) of C-subunits to engage substrates. PRKACA/B genes encode the Cα- and Cβ-subunits while the 4 functionally non-redundant regulatory subunits are encoded by PRKAR1A/1B/2A/2B genes. As the authors comment, the RIβ subunit is primarily expressed in brain with higher expression in cortex and hypothalamus.\r\n\r\nThe functional consequences of the variants at cellular level were not studied.\r\n\r\nPrevious studies have demonstrated that downregulation of RIβ in murine hippocampal cultures, reduced phosphorylation of CREB, a transcription factor involved in long-term memory formation. The authors speculate that a similar effect on cAMP/PKA/CREB cascade may mediate the cognitive effects in humans. RIβ deficient mice also display diminished nociceptive pain, similar to the human phenotype. [Several refs provided].\r\n\r\nThe authors cite the study by Kaplanis et al (2020 - PMID: 33057194), where in a large sample of 31,058 trio exomes of children with developmental disorders, PRKAR1B was among the genes with significant enrichment for de novo missense variants. [The gene has a pLI score of 0.18 in gnomAD / o/e = 0.26 - so pLoF variants may not be deleterious].\r\n\r\nPlease note that a specific PRKAR1B variant (NM_002735.2:c.149T>G - p.Leu50Arg) has been previous reported to segregate with a late-onset neurodegenerative disorder characterized by dementia and/or parkinsonism within a large pedigree with 12 affected individuals [Wong et al 2014 - PMID: 25414040]. \nSources: Literature","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-02T02:14:21.828711+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3128","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: PRKAR1B was added\ngene: PRKAR1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 33057194\nPhenotypes for gene: PRKAR1B were set to Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure\nPenetrance for gene: PRKAR1B were set to unknown\nReview for gene: PRKAR1B was set to AMBER\nAdded comment: Please consider inclusion of this gene with amber rating pending publication of the preprint and/or additional evidence.\r\n\r\nMarbach et al. (2020 - medRxiv : https://doi.org/10.1101/2020.09.10.20190314 - last author : C. Schaaf) report 6 unrelated individuals with heterozygous missense PRKAR1B variants.\r\n\r\nAll presented formal ASD diagnosis (6/6), global developmental delay (6/6) and intellectual disability (all - formal evaluations were lacking though). Additional features included neurologic anomalies (movement disorders : dyspraxia, apraxia, clumsiness in all, with tremor/dystonia or involuntary movements as single occurrences). Three displayed high pain tolerance. Regression in speech was a feature in two. Additional behavior anomalies included ADHD (4-5/6) or aggression (3/6). There was no consistent pattern of malformations, physical anomalies or facial features (with the exception of uplsanted palpebral fissures reported in 4). \r\n\r\n3 different missense variants were identified (NM_00116470:c.1003C>T - p.Arg335Trp, c.586G>A - p.Glu196Lys, c.500_501delAAinsTT - p.Gln167Leu) with Arg355Trp being a recurrent one within this cohort (4/6 subjects). A possible splicing effect may apply for the MNV. All variants are absent from gnomAD and the SNVs had CADD scores > 24.\r\n\r\nIn all cases were parental samples were available (5/6), the variant had occurred as a de novo event. \r\n\r\nProtein kinase A (PKA) is a tetrameric holoenzyme formed by the association of 2 catalytic (C) subunits with a regulatory (R) subunit dimer. Activation of PKA is achieved through binding of 2 cAMP molecules to each R-subunit, and unleashing(/dissociation) of C-subunits to engage substrates. PRKACA/B genes encode the Cα- and Cβ-subunits while the 4 functionally non-redundant regulatory subunits are encoded by PRKAR1A/1B/2A/2B genes. As the authors comment, the RIβ subunit is primarily expressed in brain with higher expression in cortex and hypothalamus.\r\n\r\nThe functional consequences of the variants at cellular level were not studied.\r\n\r\nPrevious studies have demonstrated that downregulation of RIβ in murine hippocampal cultures, reduced phosphorylation of CREB, a transcription factor involved in long-term memory formation. The authors speculate that a similar effect on cAMP/PKA/CREB cascade may mediate the cognitive effects in humans. RIβ deficient mice also display diminished nociceptive pain, similar to the human phenotype. [Several refs provided].\r\n\r\nThe authors cite the study by Kaplanis et al (2020 - PMID: 33057194), where in a large sample of 31,058 trio exomes of children with developmental disorders, PRKAR1B was among the genes with significant enrichment for de novo missense variants. [The gene has a pLI score of 0.18 in gnomAD / o/e = 0.26 - so pLoF variants may not be deleterious].\r\n\r\nPlease note that a specific PRKAR1B variant (NM_002735.2:c.149T>G - p.Leu50Arg) has been previous reported to segregate with a late-onset neurodegenerative disorder characterized by dementia and/or parkinsonism within a large pedigree with 12 affected individuals [Wong et al 2014 - PMID: 25414040]. \nSources: Literature","entity_name":"PRKAR1B","entity_type":"gene"},{"created":"2020-11-01T22:09:03.026849+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFM1 as ready","entity_name":"GFM1","entity_type":"gene"},{"created":"2020-11-01T22:09:03.011538+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfm1 has been classified as Green List (High Evidence).","entity_name":"GFM1","entity_type":"gene"},{"created":"2020-11-01T22:08:57.372851+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GFM1 as Green List (high evidence)","entity_name":"GFM1","entity_type":"gene"},{"created":"2020-11-01T22:08:57.363898+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfm1 has been classified as Green List (High Evidence).","entity_name":"GFM1","entity_type":"gene"},{"created":"2020-11-01T22:08:49.986585+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFM1 was added\ngene: GFM1 was added to Liver Failure_Paediatric. Sources: Expert list\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFM1 were set to 31680380; 23430926\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, MIM#\t609060\nReview for gene: GFM1 was set to GREEN\nAdded comment: Multi-system mitochondrial disorder, predominantly neurological features with or without hepatic involvement. Liver failure reported. \nSources: Expert list","entity_name":"GFM1","entity_type":"gene"},{"created":"2020-11-01T22:03:51.620159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR1H4 as ready","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:03:51.603954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr1h4 has been classified as Green List (High Evidence).","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:03:43.654170+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR1H4 were changed from  to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:03:20.394768+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR1H4 were set to ","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:02:54.164079+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5227","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR1H4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:02:35.219987+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5226","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26888176, 32443034; Phenotypes: Cholestasis, progressive familial intrahepatic, 5, MIM# 617049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:01:56.221340+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR1H4 as ready","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:01:56.210818+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr1h4 has been classified as Green List (High Evidence).","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:01:53.987925+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR1H4 were changed from  to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:01:02.238418+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR1H4 were set to ","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:00:34.637786+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR1H4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T22:00:05.762064+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26888176, 32443034; Phenotypes: Cholestasis, progressive familial intrahepatic, 5, MIM# 617049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T21:59:07.032344+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR1H4 as ready","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T21:59:07.024505+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr1h4 has been classified as Green List (High Evidence).","entity_name":"NR1H4","entity_type":"gene"},{"created":"2020-11-01T21:58:56.556066+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR1H4 as Green List (high evidence)","entity_name":"NR1H4","entity_type":"gene"}]}