Palmoplantar Keratoderma and Erythrokeratoderma
Gene: RHBDF2

RHBDF2 (rhomboid 5 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000129667
EnsemblGeneIds (GRCh37): ENSG00000129667
OMIM: 614404, Gene2Phenotype
RHBDF2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 families reported. Missense variants.

Note bi-allelic LoF variants are associated with immune dysregulation.
Created: 24 Jan 2022, 4:47 a.m. | Last Modified: 24 Jan 2022, 4:51 a.m.

Panel Version: 0.110

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tylosis with esophageal cancer, MIM# 148500

Publications

Created: 24 Jan 2022, 4:47 a.m.
Last Modified: 24 Jan 2022, 4:51 a.m.
Panel version: 0.107

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Tylosis with oesophageal cancer, MIM# 148500

OMIM

614404

Clinvar variants

Variants in RHBDF2

Penetrance

None

Publications

Panels with this gene