Epidermolysis bullosa and congenital skin fragility
Gene: SERPINB8Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530;Peeling skin syndrome 5, 617115;Ichthyosis HP:0008064;skin erosions HP:0200041Created: 24 Mar 2021, 1:28 p.m. | Last Modified: 24 Mar 2021, 1:28 p.m.
Panel Version: 1.36
Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.Created: 15 Jan 2019, 10:35 a.m.
Comment Imported from Peeling skin syndrome panel version 0.16: 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 Imported from Peeling skin syndrome panel version 0.16: Comment on mode of inheritance: Mode of inheritance confirmed by PMID:27476651/OMIM.Created: 2 Dec 2016, 10:50 a.m.
Comment Imported from Peeling skin syndrome panel version 0.16: 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 Imported from Peeling skin syndrome panel version 0.16: 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
Phenotypes for gene: SERPINB8 were changed from Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 5, OMIM:617115
gene: SERPINB8 was added gene: SERPINB8 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB8 were set to 27476651 Phenotypes for gene: SERPINB8 were set to Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041