Peeling skin syndrome
Gene: SERPINB8Comment 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.
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
12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for gene SERPINB8 were set to Peeling skin syndrome 5, 617115; Peeling skin HP:0040189;Ichthyosis HP:0008064;skin erosions HP:0200041;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530
Phenotypes for SERPINB8 were set to Peeling skin HP:0040189; Ichthyosis HP:0008064; skin erosions HP:0200041; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530
Mode of inheritance for SERPINB8 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for SERPINB8 were set to 27476651
SERPINB8 was created by ellenmcdonagh
SERPINB8 was added to Peeling skin syndromepanel. Sources: Research