| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dilated Cardiomyopathy v0.58 | GATA6 | Zornitza Stark Marked gene: GATA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.58 | GATA6 | Zornitza Stark Added comment: Comment when marking as ready: Borderline number of segregations done as part of the original study. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.58 | GATA6 | Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.58 | GATA6 | Zornitza Stark Classified gene: GATA6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.58 | GATA6 | Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | GATA6 |
Paul De Fazio gene: GATA6 was added gene: GATA6 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA6 were set to 25119427; 31301121; 20705924 Phenotypes for gene: GATA6 were set to Dilated cardiomyopathy Review for gene: GATA6 was set to AMBER gene: GATA6 was marked as current diagnostic Added comment: PMID 25119427: 2 Chinese DCM families from a cohort of 140 reported with missense variants in GATA6 (both variants absent from gnomAD). Variants segregated with disease. Luciferase reporter assays showed the GATA6 mutant proteins caused reduced transcriptional activation. Other clinical reports list complex cardiac phenotypes associated with other abnormalities (especially pancreatic) (PMID: 31301121). Combinatorial deletion of Gata4 and Gata6 from the adult heart of mice resulted in dilated cardiomyopathy and lethality by 16 weeks of age (PMID: 20705924). Sources: Literature |
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