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Hypertrophic cardiomyopathy_HCM v0.69 | TPM1 | Zornitza Stark Publications for gene: TPM1 were set to 31270709 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.67 | TPM1 | Ivan Macciocca reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: HCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.18 | TPM1 | Zornitza Stark Marked gene: TPM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.18 | TPM1 | Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.18 | TPM1 | Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, 611878; Cardiomyopathy, hypertrophic, 3, 115196; Left ventricular noncompaction 9, 611878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.17 | TPM1 | Zornitza Stark Publications for gene: TPM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.16 | TPM1 | Zornitza Stark Mode of pathogenicity for gene: TPM1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.15 | TPM1 | Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.11 | TPM1 | Kristin Rigbye Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.11 | TPM1 |
Kristin Rigbye edited their review of gene: TPM1: Added comment: Well known gene-disease association. Mechanism not established, but likely gain of function; it's possible that HCM variants are GoF, whilst DCM variants are LoF (PMID: 31270709).; Changed phenotypes: Cardiomyopathy, dilated, 1Y, 611878, Cardiomyopathy, hypertrophic, 3, 115196, Left ventricular noncompaction 9, 611878 |
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Hypertrophic cardiomyopathy_HCM v0.11 | TPM1 | Kristin Rigbye reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31270709; Phenotypes: Cardiomyopathy, dilated, 1Y, Cardiomyopathy, hypertrophic, 3, Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.0 | TPM1 |
Zornitza Stark gene: TPM1 was added gene: TPM1 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TPM1 was set to Unknown |