{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=335","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=333","results":[{"created":"2024-12-04T14:53:56.512429+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"0.35","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 23447832, 23176820; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"WDR45","entity_type":"gene"},{"created":"2024-12-04T14:35:09.160162+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"0.35","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301718, 24745848, 27516098; Phenotypes: PLA2G6-associated neurodegeneration MONDO:0017998; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2024-12-04T13:59:47.552858+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"0.35","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15911822, 22127788; Phenotypes: Neurodegeneration with brain iron accumulation 1 MIM#234200, pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PANK2","entity_type":"gene"},{"created":"2024-12-04T13:37:18.168691+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2024-12-04T13:35:38.122869+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.421","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ROCK2 as ready","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:35:38.076432+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.421","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rock2 has been classified as Amber List (Moderate Evidence).","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:26:27.201525+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.421","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ROCK2 as Amber List (moderate evidence)","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:26:27.186802+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.421","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rock2 has been classified as Amber List (Moderate Evidence).","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:26:10.283920+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"0.35","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438811, 12746423, 15099026; Phenotypes: Neurodegeneration with brain iron accumulation 3 MIIM#606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FTL","entity_type":"gene"},{"created":"2024-12-04T13:25:45.582714+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ROCK2 as ready","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:25:45.558802+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rock2 has been classified as Amber List (Moderate Evidence).","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:25:02.638194+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ROCK2 as Amber List (moderate evidence)","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:25:02.614166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2166","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rock2 has been classified as Amber List (Moderate Evidence).","entity_name":"ROCK2","entity_type":"gene"},{"created":"2024-12-04T13:23:02.696831+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PCSK9 as ready","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-12-04T13:23:02.667035+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pcsk9 has been classified as Green List (High Evidence).","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-12-04T13:22:32.285849+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPP5C as ready","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:22:32.266994+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp5c has been classified as Amber List (Moderate Evidence).","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:22:09.587348+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPP5C as Amber List (moderate evidence)","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:22:09.571455+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp5c has been classified as Amber List (Moderate Evidence).","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:21:02.765436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2165","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPP5C as ready","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:21:02.741584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2165","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp5c has been classified as Amber List (Moderate Evidence).","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:20:46.181976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2165","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPP5C as Amber List (moderate evidence)","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:20:46.163858+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2165","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppp5c has been classified as Amber List (Moderate Evidence).","entity_name":"PPP5C","entity_type":"gene"},{"created":"2024-12-04T13:19:56.850142+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PCSK9 were changed from  to hypercholesterolemia, autosomal dominant, 3 MONDO:0011369","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-12-04T13:19:27.889219+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PCSK9 were set to ","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-12-04T13:18:52.005523+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: PCSK9 was changed from  to Other","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-12-04T13:16:49.799373+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-12-04T13:15:52.970872+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LIPA as ready","entity_name":"LIPA","entity_type":"gene"},{"created":"2024-12-04T13:15:52.955525+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lipa has been classified as Green List (High Evidence).","entity_name":"LIPA","entity_type":"gene"},{"created":"2024-12-04T13:15:16.188765+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: LIPA were changed from  to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204","entity_name":"LIPA","entity_type":"gene"},{"created":"2024-12-04T13:03:51.533714+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: LIPA were set to 11487567","entity_name":"LIPA","entity_type":"gene"},{"created":"2024-12-04T13:02:53.171054+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: LIPA were set to ","entity_name":"LIPA","entity_type":"gene"},{"created":"2024-12-04T13:01:46.910214+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPA","entity_type":"gene"},{"created":"2024-12-04T12:59:26.757098+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CYP27A1 as ready","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-12-04T12:59:26.741524+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cyp27a1 has been classified as Green List (High Evidence).","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-12-04T12:59:23.464292+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: CYP27A1 were changed from  to Cerebrotendinous xanthomatosis\tMONDO:0008948","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-12-04T12:58:51.299778+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CYP27A1 as Green List (high evidence)","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-12-04T12:58:51.292895+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Included on this panel as a differential diagnosis for FH, particularly with the presence of xanthomas.","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-12-04T12:58:51.257018+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cyp27a1 has been classified as Green List (High Evidence).","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-12-04T12:56:30.030622+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"0.35","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 20853438, 19068277; Phenotypes: hereditary spastic paraplegia 35 MONDO:0012866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FA2H","entity_type":"gene"},{"created":"2024-12-04T12:53:24.462740+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2024-12-04T12:52:24.463184+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.35","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - \r\n https://search.clinicalgenome.org/CCID:004156\r\n\r\nMechanism of disease is LoF that typically impair LDL-C binding to the LDLR.; to: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - \r\n https://search.clinicalgenome.org/CCID:004156\r\n","entity_name":"APOB","entity_type":"gene"},{"created":"2024-12-04T12:49:54.285974+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on mode of pathogenicity: The mechanism for disease involves defective apo B100 on LDL particles that fail to bind to LDLR.","entity_name":"APOB","entity_type":"gene"},{"created":"2024-12-04T12:49:54.248235+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: APOB was changed from  to Other","entity_name":"APOB","entity_type":"gene"},{"created":"2024-12-04T12:47:41.641291+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: APOB were changed from  to hypercholesterolemia, autosomal dominant, type B MONDO:0007751","entity_name":"APOB","entity_type":"gene"},{"created":"2024-12-04T12:47:10.913318+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: APOB were set to ","entity_name":"APOB","entity_type":"gene"},{"created":"2024-12-04T12:44:37.282148+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOB","entity_type":"gene"},{"created":"2024-12-04T12:43:58.505667+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCG8","entity_type":"gene"},{"created":"2024-12-04T12:43:17.040688+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ABCG8 were set to ","entity_name":"ABCG8","entity_type":"gene"},{"created":"2024-12-04T12:42:25.578835+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ABCG8 were changed from  to Sitosterolemia\tMONDO:0008863","entity_name":"ABCG8","entity_type":"gene"},{"created":"2024-12-04T12:28:32.238691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2164","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays. \r\nPMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6). \nSources: Literature; to: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays. \r\nPMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6). Cosegergation in 1 affected relative also reported.\r\nSources: Literature","entity_name":"RAB35","entity_type":"gene"},{"created":"2024-12-04T12:27:57.096329+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2164","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RAB35 as ready","entity_name":"RAB35","entity_type":"gene"},{"created":"2024-12-04T12:27:57.078513+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2164","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rab35 has been classified as Red List (Low Evidence).","entity_name":"RAB35","entity_type":"gene"},{"created":"2024-12-04T12:27:34.522991+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2164","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RAB35 was added\ngene: RAB35 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB35 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RAB35 were set to 38432637; 36928819\nPhenotypes for gene: RAB35 were set to familial hypercholesterolemia MONDO:0005439; neurodevelopmental disorder MONDO:0700092\nReview for gene: RAB35 was set to RED\nAdded comment: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays. \r\nPMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6). \nSources: Literature","entity_name":"RAB35","entity_type":"gene"},{"created":"2024-12-04T11:44:16.627378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2163","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARPC3 as ready","entity_name":"ARPC3","entity_type":"gene"},{"created":"2024-12-04T11:44:16.613372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2163","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arpc3 has been classified as Amber List (Moderate Evidence).","entity_name":"ARPC3","entity_type":"gene"},{"created":"2024-12-04T11:43:30.133737+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2163","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARPC3 as Amber List (moderate evidence)","entity_name":"ARPC3","entity_type":"gene"},{"created":"2024-12-04T11:43:30.121750+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2163","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arpc3 has been classified as Amber List (Moderate Evidence).","entity_name":"ARPC3","entity_type":"gene"},{"created":"2024-12-04T11:42:57.131347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2162","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARPC3 was added\ngene: ARPC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC3 were set to 36928819; 26166300\nPhenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626\nReview for gene: ARPC3 was set to AMBER\nAdded comment: Posterior probability association (PPA) 0.995 for Charcot-Marie Tooth disease under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 549 CMT cases and 54,856 controls used in BeviMed analysis. 5 rare variants (missense, splice region, a splice acceptor site) enriched in the CMT cohort (n=14).\r\nAdditionally, ArpC3 conditional knockout mice fail to ensheath axons causing axon dysfunction. \nSources: Literature","entity_name":"ARPC3","entity_type":"gene"},{"created":"2024-12-04T11:28:06.091877+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature; to: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 182 early-onset hypertension cases and 55,305 controls used in BeviMed analysis. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \r\nSources: Literature","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T11:27:48.552735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2161","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature; to: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 182 early-onset hypertension cases and 55,305 controls used in BeviMed analysis. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \r\nSources: Literature","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T11:25:57.792328+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.208","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)\r\n\r\nPMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome. \nSources: Literature; to: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 510 CHI cases assessed and 54,738 controls in BeviMed analysis. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)\r\n\r\nPMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome. \r\nSources: Literature","entity_name":"FMN1","entity_type":"gene"},{"created":"2024-12-04T11:25:23.314251+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2161","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned); to: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 510 CHI cases assessed and 54,738 controls in BeviMed analysis. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)","entity_name":"FMN1","entity_type":"gene"},{"created":"2024-12-04T10:12:15.285242+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: USP33 as ready","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:12:15.259531+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: usp33 has been classified as Red List (Low Evidence).","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:12:07.919650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2161","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: USP33 as Red List (low evidence)","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:12:07.905372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2161","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: usp33 has been classified as Red List (Low Evidence).","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:08:03.471343+11:00","panel_name":"Hypertension and Aldosterone disorders","panel_id":190,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: USP33 was added\ngene: USP33 was added to Hypertension and Aldosterone disorders. Sources: Literature\nMode of inheritance for gene: USP33 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: USP33 were set to 36928819\nPhenotypes for gene: USP33 were set to Renal hypertension MONDO:0001105\nReview for gene: USP33 was set to AMBER\nAdded comment: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:06:27.753346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2160","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: USP33 as ready","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:06:27.742668+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2160","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: usp33 has been classified as Amber List (Moderate Evidence).","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:05:55.448780+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2160","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: USP33 as Amber List (moderate evidence)","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:05:55.431695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2160","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: usp33 has been classified as Amber List (Moderate Evidence).","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T10:04:59.753269+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2159","user_name":"Bryony Thompson","item_type":"entity","text":"gene: USP33 was added\ngene: USP33 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: USP33 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: USP33 were set to 36928819\nPhenotypes for gene: USP33 were set to Renal hypertension MONDO:0001105\nReview for gene: USP33 was set to AMBER\nAdded comment: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature","entity_name":"USP33","entity_type":"gene"},{"created":"2024-12-04T09:39:30.742512+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.314","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SCN3B as Red List (low evidence)","entity_name":"SCN3B","entity_type":"gene"},{"created":"2024-12-04T09:39:30.734647+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.314","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Disputed Brugada syndrome gene","entity_name":"SCN3B","entity_type":"gene"},{"created":"2024-12-04T09:39:30.663087+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.314","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: scn3b has been classified as Red List (Low Evidence).","entity_name":"SCN3B","entity_type":"gene"},{"created":"2024-12-04T09:39:10.548423+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RNASEL as ready","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-12-04T09:39:10.531474+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnasel has been classified as Red List (Low Evidence).","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-12-04T09:38:41.882427+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RNASEL as Red List (low evidence)","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-12-04T09:38:41.876521+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Reportedly a prostate cancer risk factor. Not associated with Mendelian disease","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-12-04T09:38:41.825166+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnasel has been classified as Red List (Low Evidence).","entity_name":"RNASEL","entity_type":"gene"},{"created":"2024-12-04T09:35:54.900581+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.312","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RBM12 as ready","entity_name":"RBM12","entity_type":"gene"},{"created":"2024-12-04T09:35:54.879647+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.312","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rbm12 has been classified as Amber List (Moderate Evidence).","entity_name":"RBM12","entity_type":"gene"},{"created":"2024-12-04T09:35:01.589007+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.312","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RBM12 as Amber List (moderate evidence)","entity_name":"RBM12","entity_type":"gene"},{"created":"2024-12-04T09:35:01.570048+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.312","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rbm12 has been classified as Amber List (Moderate Evidence).","entity_name":"RBM12","entity_type":"gene"},{"created":"2024-12-04T09:32:22.745338+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: RABL3 were set to 31406347","entity_name":"RABL3","entity_type":"gene"},{"created":"2024-12-04T09:31:38.295875+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.310","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RABL3 as Red List (low evidence)","entity_name":"RABL3","entity_type":"gene"},{"created":"2024-12-04T09:31:38.291440+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.310","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: One family reported and no replication in other pancreatic cancer cohorts at this point.","entity_name":"RABL3","entity_type":"gene"},{"created":"2024-12-04T09:31:38.266656+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.310","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rabl3 has been classified as Red List (Low Evidence).","entity_name":"RABL3","entity_type":"gene"},{"created":"2024-12-04T09:30:51.700724+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.309","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RABL3 as Red List (low evidence)","entity_name":"RABL3","entity_type":"gene"},{"created":"2024-12-04T09:30:51.693822+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.309","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: One family reported and no replication in other pancreatic cancer cohorts at this point.","entity_name":"RABL3","entity_type":"gene"},{"created":"2024-12-04T09:30:51.642847+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.309","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rabl3 has been classified as Red List (Low Evidence).","entity_name":"RABL3","entity_type":"gene"},{"created":"2024-12-04T08:57:46.992107+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2158","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UCHL1 as ready","entity_name":"UCHL1","entity_type":"gene"},{"created":"2024-12-04T08:57:46.982935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2158","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: uchl1 has been classified as Green List (High Evidence).","entity_name":"UCHL1","entity_type":"gene"},{"created":"2024-12-04T08:57:12.901697+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2158","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UCHL1 as Green List (high evidence)","entity_name":"UCHL1","entity_type":"gene"},{"created":"2024-12-04T08:57:12.889309+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2158","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: uchl1 has been classified as Green List (High Evidence).","entity_name":"UCHL1","entity_type":"gene"},{"created":"2024-12-04T08:56:51.454148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2157","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737, 39030458; Phenotypes: Spastic paraplegia 79A, autosomal dominant, MIM# 620221, Spastic paraplegia 79, autosomal recessive, 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"UCHL1","entity_type":"gene"},{"created":"2024-12-04T08:45:31.960959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2157","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UCHL1 was added\ngene: UCHL1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905; 35986737; 39030458\nPhenotypes for gene: UCHL1 were set to Spastic paraplegia 79A, autosomal dominant, MIM# 620221; Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related","entity_name":"UCHL1","entity_type":"gene"},{"created":"2024-12-03T17:01:11.424579+11:00","panel_name":"Neurodegeneration with brain iron accumulation","panel_id":3438,"panel_version":"0.35","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542792, 38320940, 30409855, 35876063; Phenotypes: Woodhouse-Sakati syndrome MONDO:0009419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCAF17","entity_type":"gene"},{"created":"2024-12-03T16:50:55.131111+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TUFT1 as Amber List (moderate evidence)","entity_name":"TUFT1","entity_type":"gene"}]}