Epidermolysis bullosa
Gene: KLHL24

KLHL24 (kelch like family member 24)
EnsemblGeneIds (GRCh38): ENSG00000114796
EnsemblGeneIds (GRCh37): ENSG00000114796
OMIM: 611295, Gene2Phenotype
KLHL24 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

The c.1A-G transition (c.1A-G, NM_017644.3) in the start codon is recurrent.
Created: 13 Feb 2021, 7:06 a.m. | Last Modified: 13 Feb 2021, 7:06 a.m.

Panel Version: 0.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294

Publications

Created: 13 Feb 2021, 7:06 a.m.
Last Modified: 13 Feb 2021, 7:06 a.m.
Panel version: 0.70

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294

OMIM

611295

Clinvar variants

Variants in KLHL24

Penetrance

None

Publications

Panels with this gene