| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dilated Cardiomyopathy v1.9 | CHRM2 | Zornitza Stark Marked gene: CHRM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.9 | CHRM2 | Zornitza Stark Gene: chrm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.9 | CHRM2 |
Zornitza Stark gene: CHRM2 was added gene: CHRM2 was added to Dilated Cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHRM2 were set to 23743182; 18451336 Phenotypes for gene: CHRM2 were set to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related Review for gene: CHRM2 was set to RED Added comment: 1 family with 12 affecteds (Cys176Gly, absent in gnomad). Proteomics analysis was later conducted This gene has not been curated by the ClinGen DCM expert panel. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||