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| Cardiomyopathy_Paediatric v0.74 | UQCRFS1 | Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.74 | UQCRFS1 | Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.73 | UQCRFS1 | Zornitza Stark edited their review of gene: UQCRFS1: Added comment: Functional evidence in addition to the two families reported, upgrade to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.73 | UQCRFS1 | Zornitza Stark Marked gene: UQCRFS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.73 | UQCRFS1 | Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.73 | UQCRFS1 | Zornitza Stark Phenotypes for gene: UQCRFS1 were changed from cardiomyopathy; thrombocytopenia; hypotonia to Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; cardiomyopathy; thrombocytopenia; hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.72 | UQCRFS1 | Zornitza Stark Classified gene: UQCRFS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.72 | UQCRFS1 | Zornitza Stark Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.71 | UQCRFS1 | Zornitza Stark reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.65 | UQCRFS1 |
John Christodoulou gene: UQCRFS1 was added gene: UQCRFS1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to PMID: 31883641 Phenotypes for gene: UQCRFS1 were set to cardiomyopathy; thrombocytopenia; hypotonia Penetrance for gene: UQCRFS1 were set to Complete Review for gene: UQCRFS1 was set to AMBER Added comment: I'd label this one as amber: two unrelated cases see OMIM 618775 Sources: Literature |
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