Hypertrophic cardiomyopathy
Gene: KLF10
KLF10 (Kruppel like factor 10)
EnsemblGeneIds (GRCh38): ENSG00000155090
EnsemblGeneIds (GRCh37): ENSG00000155090
OMIM: 601878, Gene2Phenotype
KLF10 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000155090
EnsemblGeneIds (GRCh37): ENSG00000155090
OMIM: 601878, Gene2Phenotype
KLF10 is in 1 panel
2 reviews
Rebecca Whittington (South West GLH)
No phenotypeCreated: 25 Mar 2019, 4:30 p.m.
6 DM variants on HGMD reported in , but 3 reduced pathogenicity following subsequent review. (pubmed 22234868, 30165862, 23299917)Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Ellen McDonagh (Genomics England Curator)
On the Inherited Cardiac Condition Genes panel for Hypertrophic cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 6.
Created: 19 Feb 2016, 11:55 a.m.
Publications
- 22234868
- doi:10.1007/s12265-016-9673-5
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- Literature
- Phenotypes
-
- Hypertrophic cardiomyopathy
- OMIM
- 601878
- Clinvar variants
- Variants in KLF10
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to KLF10.
19 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)KLF10 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature
19 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KLF10 was created by ellenmcdonagh