Hypertrophic cardiomyopathy_HCM
Gene: KLF10EnsemblGeneIds (GRCh38): ENSG00000155090
EnsemblGeneIds (GRCh37): ENSG00000155090
OMIM: 601878, Gene2Phenotype
KLF10 is in 2 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
Curated by ClinGen and rated as limited evidence.
Misssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature.
Sources: LiteratureCreated: 29 Jul 2020, 12:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HCM
Publications
- PMID: 22234868
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- HCM
- OMIM
- 601878
- Clinvar variants
- Variants in KLF10
- Penetrance
- None
- Publications
-
- PMID: 22234868
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: klf10 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: klf10 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Naomi Baker (Victorian Clinical Genetics Services)gene: KLF10 was added gene: KLF10 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF10 were set to PMID: 22234868 Phenotypes for gene: KLF10 were set to HCM Review for gene: KLF10 was set to RED