Dilated Cardiomyopathy and conduction defects
Gene: TMPO
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
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
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.
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
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
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene TMPO was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMPO was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
Model of inheritance for gene TMPO was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMPO was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
TMPO was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN