Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Marked gene: CDH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Classified gene: CDH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.43 | CDH2 |
Paul De Fazio changed review comment from: Associated with ARVC. "Limited evidence" for ARVC by ClinGen. Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans. Green in PanelApp GEL but did not achieve consensus green rating. Sources: Literature; to: Associated with ARVC. "Limited evidence" for ARVC by ClinGen. Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of DCM in humans. Green in PanelApp GEL but did not achieve consensus green rating. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.43 | CDH2 |
Paul De Fazio gene: CDH2 was added gene: CDH2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 28280076; 15662031 Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920 Review for gene: CDH2 was set to RED gene: CDH2 was marked as current diagnostic Added comment: Associated with ARVC. "Limited evidence" for ARVC by ClinGen. Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans. Green in PanelApp GEL but did not achieve consensus green rating. Sources: Literature |