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Hypertrophic cardiomyopathy_HCM v0.89 | MYOZ2 |
Paul De Fazio changed review comment from: Limited evidence by ClinGen working group. Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. A review of the literature finds no other reports.; to: Limited evidence by ClinGen working group. Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function. A review of the literature finds no other reports. |
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Hypertrophic cardiomyopathy_HCM v0.61 | MYH7 | Zornitza Stark Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.61 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.61 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, hypertrophic, 1, MIM# 192600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.60 | MYH7 | Zornitza Stark Publications for gene: MYH7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.59 | MYH7 | Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.28 | MYH7 | Ivan Macciocca reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: hypertrophic cardiomyopathy, LVNC, DCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.0 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH7 was set to Unknown |