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Dilated Cardiomyopathy and conduction defects v1.55 | PRKAG2 | Rebecca Whittington commented on gene: PRKAG2: Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.54 | PRKAG2 | Rebecca Whittington commented on gene: PRKAG2: Variants mainly assoc with HCM. HGMD: 3 variants assoc with DCM: 1 x Lu 2017 (Lu et al. J Transl Med (2018) 16:241) - VUS using ACMG. 2 x on LMM data(Walsh 2017) one has probably too high freq and also reported in LVNC, other variant no freq. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.53 | PRKAG2 | Rebecca Whittington reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy and conduction defects v1.47 | PRKAG2 |
Ellen McDonagh Source South West GLH was added to PRKAG2. Mode of inheritance for gene PRKAG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |