Paediatric or syndromic cardiomyopathy
Gene: TMPOEnsemblGeneIds (GRCh38): ENSG00000120802
EnsemblGeneIds (GRCh37): ENSG00000120802
OMIM: 188380, Gene2Phenotype
TMPO is in 3 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
No phenotype on OMIMCreated: 25 Mar 2019, 4:30 p.m.
Taylor 2005 Hum Mutat 26(6), 566574, 2005.1 variant but high freq and adult onset.Created: 25 Mar 2019, 4:27 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Dilated Cardiomyopathy, Dominant
- OMIM
- 188380
- Clinvar variants
- Variants in TMPO
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TMPO.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMPO was added gene: TMPO was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant