{"count":220459,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1526","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1524","results":[{"created":"2020-10-25T19:46:39.789940+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX14 were changed from Mitochondrial complex IV deficiency, MIM#220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053","entity_name":"COX14","entity_type":"gene"},{"created":"2020-10-25T19:46:09.616031+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COX14: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053","entity_name":"COX14","entity_type":"gene"},{"created":"2020-10-25T19:45:51.767497+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX14 were changed from Mitochondrial complex IV deficiency, MIM#220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053","entity_name":"COX14","entity_type":"gene"},{"created":"2020-10-25T19:45:29.530870+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5111","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COX14: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053","entity_name":"COX14","entity_type":"gene"},{"created":"2020-10-25T19:45:06.995610+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX14 were changed from Mitochondrial complex IV deficiency, MIM#220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM#\t619053","entity_name":"COX14","entity_type":"gene"},{"created":"2020-10-25T19:44:31.760851+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COX14: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053","entity_name":"COX14","entity_type":"gene"},{"created":"2020-10-25T19:43:20.342490+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TACO1 as ready","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:43:20.334346+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taco1 has been classified as Amber List (Moderate Evidence).","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:43:03.189184+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TACO1 were changed from  to Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:42:35.620935+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TACO1 were set to ","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:42:06.375063+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:41:38.590665+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TACO1 as Amber List (moderate evidence)","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:41:38.579531+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taco1 has been classified as Amber List (Moderate Evidence).","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:41:06.046343+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19503089, 20727754, 25044680, 27319982; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:39:42.354050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TACO1 as ready","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:39:42.343163+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taco1 has been classified as Green List (High Evidence).","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:39:35.050122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TACO1 were changed from  to Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:39:17.720480+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TACO1 were set to ","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:38:58.209981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5109","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:38:41.225963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5108","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19503089, 20727754, 25044680, 27319982; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:38:05.205960+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TACO1 were changed from Mitochondrial complex IV deficiency; OMIM #220110 to Mitochondrial complex IV deficiency, nuclear type 8, MIM#\t619052","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T19:37:01.431917+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TACO1: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-10-25T17:29:40.750029+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACA as ready","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:29:40.739137+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkaca has been classified as Green List (High Evidence).","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:29:37.519286+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACA as Green List (high evidence)","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:29:37.511134+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkaca has been classified as Green List (High Evidence).","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:29:08.682342+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKACA was added\ngene: PRKACA was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKACA were set to 33058759; 31130284\nPhenotypes for gene: PRKACA were set to Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability\nMode of pathogenicity for gene: PRKACA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PRKACA was set to GREEN\nAdded comment: Palencia-Campos et al (2020 - PMID: 33058759) report on the phenotype of 3 individuals heterozygous for PRKACA and 4 individuals heterozygous for PRKACB pathogenic variants.\r\n\r\nGene included in this panel due to significant overlap with ciliopathies.\r\n\r\nThe most characteristic features in all individuals with PRKACA/PRKACB mutation, included postaxial polydactyly of hands (6/7 bilateral, 1/7 unilateral) and feet (4/7 bilateral, 1/7 unilateral), brachydactyly and congenital heart defects (CHD 5/7) namely a common atrium or AVSD. Two individuals with PRKACA variant who did not have CHD had offspring with the same variant and an AVSD.\r\n\r\nOther variably occurring features included short stature, limbs, narrow chest, abnormal teeth, oral frenula, nail dysplasia. One individual with PRKACB variant presented tumors.\r\n\r\nIntellectual disability was reported in 2/4 individuals with PRKACB variant (1/4: mild, 1/4: severe). The 3 individuals with PRKACA variant did not present ID.\r\n\r\nAs the phenotype was overall suggestive of Ellis-van Creveld syndrome (or the allelic Weyers acrofacial dysostosis), although these diagnoses were ruled out following analysis of EVC and EVC2 genes.\r\n\r\nWES was carried out in all.\r\n\r\nPRKACA : A single heterozygous missense variant was identified in 3 individuals from 3 families (NM_002730.4:c.409G>A / p.Gly137Arg) with 1 of the probands harboring the variant in mosaic state (28% of reads) and having 2 similarly affected offspring. The variant was de novo in one individual and inherited in a third one having a similarly affected fetus (narrow thorax, postaxial polyd, AVSD).\r\n\r\nPRKACB : 4 different variants were identified (NM_002731.3: p.His88Arg/Asn, p.Gly235Arg, c.161C>T - p.Ser54Leu). One of the individuals was mosaic for the latter variant, while in all other cases the variant had occurred de novo.\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.\r\n\r\nThe authors provide evidence that the variants confer increased sensitivity of PKA holoenzymes to activation by cAMP (compared to wt).\r\n\r\nBy performing ectopic expression of wt or mt PRKACA/B (variants studied : PRKACA p.Gly137Arg / PRKACB p.Gly235Arg) in NIH 3T3 fibroblasts, the authors demonstrate that inhibition of hedgehog signaling likely underlyies the developmental defects observed in affected individuals.\r\n\r\nAs for PRKACA, the authors cite another study where a 31-month old female with EvC syndrome diagnosis was found to harbor the aforementioned variant (NM_001304349.1:c.637G>A:p.Gly213Arg corresponding to NM_002730.4:c.409G>A / p.Gly137Arg) as a de novo event. Without additional evidence at the time, the variant was considered to be a candidate for this subject's phenotype (Monies et al 2019 – PMID: 31130284). \nSources: Literature","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:27:57.939312+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACA as Green List (high evidence)","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:27:57.929173+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkaca has been classified as Green List (High Evidence).","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:27:24.049968+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACA as ready","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:27:24.036215+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkaca has been classified as Green List (High Evidence).","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:27:10.781488+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACA as Green List (high evidence)","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:27:10.771362+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkaca has been classified as Green List (High Evidence).","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:26:36.066253+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACA as ready","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:26:36.049065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkaca has been classified as Green List (High Evidence).","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:26:27.229377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACA as Green List (high evidence)","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:26:27.221488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkaca has been classified as Green List (High Evidence).","entity_name":"PRKACA","entity_type":"gene"},{"created":"2020-10-25T17:25:24.664517+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACB as ready","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:25:24.656258+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Green List (High Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:25:21.012454+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACB as Green List (high evidence)","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:25:21.004662+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Green List (High Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:24:52.265517+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKACB was added\ngene: PRKACB was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKACB were set to 33058759\nPhenotypes for gene: PRKACB were set to Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability\nMode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PRKACB was set to GREEN\nAdded comment: Palencia-Campos et al (2020 - PMID: 33058759) report on the phenotype of 3 individuals heterozygous for PRKACA and 4 individuals heterozygous for PRKACB pathogenic variants.\r\n\r\nGene included in this panel due to significant phenotypic overlap with ciliopathies.\r\n\r\nThe most characteristic features in all individuals with PRKACA/PRKACB mutation, included postaxial polydactyly of hands (6/7 bilateral, 1/7 unilateral) and feet (4/7 bilateral, 1/7 unilateral), brachydactyly and congenital heart defects (CHD 5/7) namely a common atrium or AVSD. Two individuals with PRKACA variant who did not have CHD had offspring with the same variant and an AVSD.\r\n\r\nOther variably occurring features included short stature, limbs, narrow chest, abnormal teeth, oral frenula, nail dysplasia. One individual with PRKACB variant presented tumors.\r\n\r\nIntellectual disability was reported in 2/4 individuals with PRKACB variant (1/4: mild, 1/4: severe). The 3 individuals with PRKACA variant did not present ID.\r\n\r\nAs the phenotype was overall suggestive of Ellis-van Creveld syndrome (or the allelic Weyers acrofacial dysostosis), although these diagnoses were ruled out following analysis of EVC and EVC2 genes.\r\n\r\nWES was carried out in all.\r\n\r\nPRKACA : A single heterozygous missense variant was identified in 3 individuals from 3 families (NM_002730.4:c.409G>A / p.Gly137Arg) with 1 of the probands harboring the variant in mosaic state (28% of reads) and having 2 similarly affected offspring. The variant was de novo in one individual and inherited in a third one having a similarly affected fetus (narrow thorax, postaxial polyd, AVSD).\r\n\r\nPRKACB : 4 different variants were identified (NM_002731.3: p.His88Arg/Asn, p.Gly235Arg, c.161C>T - p.Ser54Leu). One of the individuals was mosaic for the latter variant, while in all other cases the variant had occurred de novo.\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.\r\n\r\nThe authors provide evidence that the variants confer increased sensitivity of PKA holoenzymes to activation by cAMP (compared to wt).\r\n\r\nBy performing ectopic expression of wt or mt PRKACA/B (variants studied : PRKACA p.Gly137Arg / PRKACB p.Gly235Arg) in NIH 3T3 fibroblasts, the authors demonstrate that inhibition of hedgehog signaling likely underlyies the developmental defects observed in affected individuals.\r\n\r\nAs for PRKACA, the authors cite another study where a 31-month old female with EvC syndrome diagnosis was found to harbor the aforementioned variant (NM_001304349.1:c.637G>A:p.Gly213Arg corresponding to NM_002730.4:c.409G>A / p.Gly137Arg) as a de novo event. Without additional evidence at the time, the variant was considered to be a candidate for this subject's phenotype (Monies et al 2019 – PMID: 31130284). \nSources: Literature","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:23:02.071158+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACB as Green List (high evidence)","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:23:02.062723+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Green List (High Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:22:40.911798+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACB as ready","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:22:40.901109+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Green List (High Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:22:35.907266+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACB as Green List (high evidence)","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:22:35.899725+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Green List (High Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:21:29.311857+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACB as ready","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:21:29.303545+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Green List (High Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:21:23.533827+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACB as Green List (high evidence)","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:21:23.523458+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Green List (High Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:20:02.632375+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACB as ready","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:20:02.621241+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Amber List (Moderate Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:19:53.219120+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKACB as Amber List (moderate evidence)","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T17:19:53.201704+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacb has been classified as Amber List (Moderate Evidence).","entity_name":"PRKACB","entity_type":"gene"},{"created":"2020-10-25T15:00:53.702414+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNGA2 as ready","entity_name":"CNGA2","entity_type":"gene"},{"created":"2020-10-25T15:00:53.689910+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnga2 has been classified as Red List (Low Evidence).","entity_name":"CNGA2","entity_type":"gene"},{"created":"2020-10-25T15:00:41.550742+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5106","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNGA2 was added\ngene: CNGA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CNGA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CNGA2 were set to 28572688\nPhenotypes for gene: CNGA2 were set to Congenital anosmia\nReview for gene: CNGA2 was set to RED\nAdded comment: Single multiplex family with high-impact variant segregating with anosmia. \nSources: Literature","entity_name":"CNGA2","entity_type":"gene"},{"created":"2020-10-25T13:56:57.874184+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COX6B1 as ready","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:56:57.861171+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Amber List (Moderate Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:56:55.363532+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX6B1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:55:48.089903+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COX6B1 were set to ","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:55:32.554847+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COX6B1 as Amber List (moderate evidence)","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:55:32.547044+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Amber List (Moderate Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:55:22.856802+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:54:03.856217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COX6B1 as ready","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:54:03.848189+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Red List (Low Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:53:59.761092+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX6B1 were changed from  to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:53:27.774327+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3109","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COX6B1 were set to ","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:52:55.930257+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3108","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COX6B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:52:27.288108+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COX6B1 as Red List (low evidence)","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:52:27.279835+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Red List (Low Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:51:53.827129+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX6B1: Rating: RED; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:51:05.351336+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COX6B1 as ready","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:51:05.340490+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Amber List (Moderate Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:51:02.280946+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX6B1 were changed from  to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:50:33.801631+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COX6B1 were set to ","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:50:04.775664+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COX6B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:49:38.039520+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COX6B1 as Amber List (moderate evidence)","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:49:38.028920+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Amber List (Moderate Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T13:00:00.007359+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:59:13.967301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COX6B1 as ready","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:59:13.956488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Green List (High Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:59:07.380394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX6B1 were changed from  to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:58:49.554840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COX6B1 were set to ","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:58:31.309466+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COX6B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:58:13.166345+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:57:10.475965+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COX6B1 as ready","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:57:10.454634+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox6b1 has been classified as Green List (High Evidence).","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:57:06.786011+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COX6B1 were changed from  to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:56:38.540140+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COX6B1 were set to ","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:55:53.417622+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHANK3 as ready","entity_name":"SHANK3","entity_type":"gene"},{"created":"2020-10-25T12:55:53.406964+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Green List (High Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2020-10-25T12:55:45.484462+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHANK3 as Green List (high evidence)","entity_name":"SHANK3","entity_type":"gene"},{"created":"2020-10-25T12:55:45.476711+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Green List (High Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2020-10-25T12:54:40.994066+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COX6B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:54:08.143420+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX6B1","entity_type":"gene"},{"created":"2020-10-25T12:49:42.311307+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.890","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCO1 as ready","entity_name":"SCO1","entity_type":"gene"},{"created":"2020-10-25T12:49:42.300086+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.890","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sco1 has been classified as Amber List (Moderate Evidence).","entity_name":"SCO1","entity_type":"gene"}]}