Dilated Cardiomyopathy
Gene: TPM1EnsemblGeneIds (GRCh38): ENSG00000140416
EnsemblGeneIds (GRCh37): ENSG00000140416
OMIM: 191010, Gene2Phenotype
TPM1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Several families reported, including ones with extensive segregation evidence; functional data, including animal model.
MODERATE by ClinGen.Created: 18 May 2021, 9:13 a.m. | Last Modified: 18 May 2021, 9:13 a.m.
Panel Version: 0.142
Phenotypes
Cardiomyopathy, dilated, 1Y, MIM# 611878
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cardiomyopathy, dilated, 1Y, MIM# 611878
- Tags
- OMIM
- 191010
- Clinvar variants
- Variants in TPM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tpm1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TPM1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag for review tag was added to gene: TPM1.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TPM1 was added gene: TPM1 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TPM1 was set to Unknown