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KLHL24

kelch like family member 24

HCNC Approved Symbol
KLHL24 (HGNC:25947)
Genomic Coordinates
3:183,635,623 - 183,684,519 (3q27.1)
Synonyms
DRE1, FLJ20059, KRIP6
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
620236AR
Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy
617294AD

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the KLHL24 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Left ventricular hypertrophy
 2 (100.0%)
Palpitations
 2 (100.0%)
Chest pain
 1 (50.0%)
Shortness of breath
 1 (50.0%)
Syncope
 1 (50.0%)