| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v1.16 | PPCS | Bryony Thompson Classified gene: PPCS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.16 | PPCS | Bryony Thompson Added comment: Comment on list classification: This gene is associated with early-onset DCM and is not suitable for this panel which contains genes associated with adolescent and adult-onset DCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.16 | PPCS | Bryony Thompson Gene: ppcs has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.7 | PPCS | Michelle Torres reviewed gene: PPCS: Rating: ; Mode of pathogenicity: None; Publications: 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.30 | PPCS |
Zornitza Stark changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation. Sources: Expert list; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein; cardiac dysfunction in Drosophila model. Sources: Expert list |
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| Dilated Cardiomyopathy v0.30 | PPCS | Zornitza Stark Marked gene: PPCS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.30 | PPCS | Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.30 | PPCS | Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.30 | PPCS | Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.29 | PPCS |
Zornitza Stark gene: PPCS was added gene: PPCS was added to Dilated Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPCS were set to 29754768 Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189 Review for gene: PPCS was set to AMBER Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation. Sources: Expert list |
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