Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Dilated Cardiomyopathy and conduction defects v1.55 | NPPA | Rebecca Whittington commented on gene: NPPA: Atrial fibrillation, familial, 6 OMIM#612201; Atrial standstill 2 OMIM#615745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.54 | NPPA | Rebecca Whittington commented on gene: NPPA: AR disease: Disertori (Circ Cardiovasc Genet. 2013 Feb;6(1):27-36. doi: 10.1161/CIRCGENETICS.112.963520. Epub 2012 Dec 29).ARg150Gln identified in the homozygous state in six individuals in a small region of Italy patients had DCM and atrial standstill. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.53 | NPPA | Rebecca Whittington reviewed gene: NPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.47 | NPPA |
Ellen McDonagh Source South West GLH was added to NPPA. Mode of inheritance for gene NPPA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |