Refuted genes
Gene: TMPOEnsemblGeneIds (GRCh38): ENSG00000120802
EnsemblGeneIds (GRCh37): ENSG00000120802
OMIM: 188380, Gene2Phenotype
TMPO is in 3 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information was sourced from the ClinGen Gene Validity Curations. The calculated classification was CONFLICTING EVIDENCE REPORTED, dated 10/07/16 and the expert curation classification for this gene-disease pair was REFUTED, dated 11/30/2016. For the full report and publications, see the ClinGen Gene Validity Curation here: https://search.clinicalgenome.org/kb/gene-validity/3211.Created: 26 Jul 2017, 10:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated Cardiomyopathy; OMIM:115200
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review
- Phenotypes
-
- Dilated Cardiomyopathy, 115200
- OMIM
- 188380
- Clinvar variants
- Variants in TMPO
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TMPO were changed from Dilated Cardiomyopathy; OMIM:115200 to Dilated Cardiomyopathy, 115200
Added New Source
Ellen McDonagh (Genomics England Curator)TMPO was added to Refuted genespanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)TMPO was created by ellenmcdonagh