Palmoplantar Keratoderma and Erythrokeratoderma
Gene: SERPINB7

SERPINB7 (serpin family B member 7)
EnsemblGeneIds (GRCh38): ENSG00000166396
EnsemblGeneIds (GRCh37): ENSG00000166396
OMIM: 603357, Gene2Phenotype
SERPINB7 is in 2 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants reported in affected unrelated Japanese, Chinese, Korean, and Finnish individuals (>30). Arg266Ter is a recurrent variant (145 hets in gnomAD, mostly East Asian, no homs).

OMIM: "Nagashima-type palmoplantar keratoderma is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis, first described by Nagashima (1977) in the Japanese literature."
Created: 16 Aug 2020, 11:57 p.m. | Last Modified: 16 Aug 2020, 11:57 p.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Palmoplantar keratoderma, Nagashima type (MIM#615598)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Aug 2020, 11:57 p.m.
Last Modified: 16 Aug 2020, 11:57 p.m.
Panel version: 0.45

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Palmoplantar keratoderma, Nagashima type (MIM#615598)

OMIM

603357

Clinvar variants

Variants in SERPINB7

Penetrance

None

Publications

Panels with this gene