| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v1.31 | C10orf71 | Zornitza Stark Marked gene: C10orf71 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.31 | C10orf71 | Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.31 | C10orf71 | Zornitza Stark Classified gene: C10orf71 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.31 | C10orf71 | Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.30 | C10orf71 |
Sangavi Sivagnanasundram gene: C10orf71 was added gene: C10orf71 was added to Dilated Cardiomyopathy. Sources: Other Mode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C10orf71 were set to 38950288 Phenotypes for gene: C10orf71 were set to dilated cardiomyopathy MONDO:0005021 Review for gene: C10orf71 was set to GREEN Added comment: Identified a frameshift variant in a large multigenerational family with 8 affected individuals. Further identified four other loss of function variants in a large Chinese cohort of sporadic DCM cases. >50 unrelated individuals identified with loss of function variants. c10orf71-Knockout mouse model recapitulating DCM human phenotype (impairs cardiac function) in the presence of the frameshift variant. Sources: Other |
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