Peeling skin syndrome
Gene: SERPINB8

SERPINB8 (serpin family B member 8)
EnsemblGeneIds (GRCh38): ENSG00000166401
EnsemblGeneIds (GRCh37): ENSG00000166401
OMIM: 601697, Gene2Phenotype
SERPINB8 is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Expert review for SERPINB8 is green and 3 cases in OMIM/literature.
Created: 5 Dec 2016, 10:16 a.m.

Comment on mode of inheritance: Mode of inheritance confirmed by PMID:27476651/OMIM.
Created: 2 Dec 2016, 10:50 a.m.

Comment on list classification: Updated rating from Red to Green: Expert review for SERPINB8 is green, and 3 unrelated cases in OMIM from PMID:27476651.
Created: 2 Dec 2016, 10:48 a.m.

Comment on publications: PMID:27476651 is 2016 paper by David Kelsell's group, describing three unrelated families with loss-of-function mutations in SERPINB8 in association with an autosomal-recessive form of exfoliative ichthyosis.
Created: 2 Dec 2016, 10:44 a.m.

Created: 2 Dec 2016, 10:44 a.m.

Panel version: 0.16

David Kelsell (Queen Mary University of London)

Green List (high evidence)

phenotypes as described in submitted details.
Paper describing three families with LOF variants in SerpinB8 associated with peeling skin currently under review at AJHG.
Created: 3 May 2016, 1:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

paper submitted

Created: 3 May 2016, 1:46 p.m.

Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Research

Phenotypes

Peeling skin syndrome 5, 617115
Peeling skin HP:0040189
Ichthyosis HP:0008064
skin erosions HP:0200041
erythema HP:0010783
palmoplantar hyperkeratosis HP:0007530

OMIM

601697

Clinvar variants

Variants in SERPINB8

Penetrance

Complete

Publications

27476651

Panels with this gene