Hypertrophic cardiomyopathy - teen and adult

Gene: KLF10

Red List (low evidence)

KLF10 (Kruppel like factor 10)
EnsemblGeneIds (GRCh38): ENSG00000155090
EnsemblGeneIds (GRCh37): ENSG00000155090
OMIM: 601878, Gene2Phenotype
KLF10 is in 2 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

No phenotype
Created: 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