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| Dilated Cardiomyopathy and conduction defects v1.82 | RYR2 | Arina Puzriakova Publications for gene: RYR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.55 | RYR2 | Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 OMIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 OMIM#604772. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | RYR2 | Rebecca Whittington commented on gene: RYR2: HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | RYR2 | Rebecca Whittington reviewed gene: RYR2: 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 | RYR2 |
Ellen McDonagh Source South West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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