Left Ventricular Noncompaction Cardiomyopathy
Gene: TPM1
TPM1 (tropomyosin 1)
EnsemblGeneIds (GRCh38): ENSG00000140416
EnsemblGeneIds (GRCh37): ENSG00000140416
OMIM: 191010, Gene2Phenotype
TPM1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000140416
EnsemblGeneIds (GRCh37): ENSG00000140416
OMIM: 191010, Gene2Phenotype
TPM1 is in 8 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Lots of evidence associated with cardiomyopathyCreated: 11 Feb 2016, 1:39 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Left ventricular noncompaction 9,
- OMIM
- 191010
- Clinvar variants
- Variants in TPM1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
11 Feb 2016, Gel status: 4
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for TPM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TPM1 was added to Left ventricular non-compaction cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TPM1 was added to Left ventricular non-compaction cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Expert list