Dilated Cardiomyopathy and conduction defects
Gene: TMPOEnsemblGeneIds (GRCh38): ENSG00000120802
EnsemblGeneIds (GRCh37): ENSG00000120802
OMIM: 188380, Gene2Phenotype
TMPO is in 3 panels
4 reviews
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 13 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: refuted association with dilated cardiomyopathy 1T (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dilated Cardiomyopathy, Dominant
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rebecca Foulger (Genomics England curator)
Comment on list classification: Changed rating from Amber to Red based on new evidence in OMIM: The variant R690C, formerly designated CARDIOMYOPATHY, DILATED, 1T, has been reclassified as a VARIANT OF UNKNOWN SIGNIFICANCE.Created: 11 May 2017, 9:42 a.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- North West GLH
- Expert Review Red
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dilated Cardiomyopathy, Dominant
- Dilated Cardiomyopathy, Dominant
- OMIM
- 188380
- Clinvar variants
- Variants in TMPO
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to TMPO. Mode of inheritance for gene TMPO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Source North West GLH was added to TMPO. Added phenotypes Dilated Cardiomyopathy, Dominant for gene: TMPO Publications for gene TMPO were changed from to 16247757; 27532257; 20186049
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMPO was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TMPO was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMPO was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TMPO was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)TMPO was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN