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Hypertrophic cardiomyopathy v1.89 | MYLK2 | Ivone Leong Publications for gene: MYLK2 were set to 27532257; 28369730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.81 | MYLK2 | Ivone Leong reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.74 | MYLK2 | James Eden reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic (192600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.74 | MYLK2 | James Eden Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.74 | MYLK2 | Matthew Edwards reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.53 | MYLK2 | Rebecca Whittington commented on gene: MYLK2: Cardiomyopathy, hypertrophic, 1, digenic (192600) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.52 | MYLK2 | Rebecca Whittington commented on gene: MYLK2: HGMD: 4 variants listed as DM all associated with HCM. 1 x nonsense, but seen with other variants in a sudden death case: Suktitipat (2017) PLoS One 12: e0180056 PubMed: 28704380. Functional evidence only according to: 10.1093/eurheartj/ehw603. Limited segregation evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.51 | MYLK2 | Rebecca Whittington reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.45 | MYLK2 |
Ellen McDonagh Source South West GLH was added to MYLK2. Mode of inheritance for gene MYLK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Hypertrophic cardiomyopathy v1.44 | MYLK2 | Ellen McDonagh reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.43 | MYLK2 | Ellen McDonagh Source London South GLH was added to MYLK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.42 | MYLK2 | James Eden reviewed gene: MYLK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic (192600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy v1.41 | MYLK2 |
Ellen McDonagh Source North West GLH was added to MYLK2. Added phenotypes Cardiomyopathy, hypertrophic, 1, digenic (192600) for gene: MYLK2 Publications for gene MYLK2 were changed from to 27532257; 28369730 |