Peeling skin syndrome

Gene: SERPINB8

Green List (high evidence)

SERPINB8 (serpin family B member 8)
EnsemblGeneIds (GRCh38): ENSG00000166401
EnsemblGeneIds (GRCh37): ENSG00000166401
OMIM: 601697, Gene2Phenotype
SERPINB8 is in 2 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.

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

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
Panels with this gene

History Filter Activity

12 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

2 Dec 2016, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SERPINB8 were set to Peeling skin HP:0040189; Ichthyosis HP:0008064; skin erosions HP:0200041; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530

2 Dec 2016, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SERPINB8 was changed to BIALLELIC, autosomal or pseudoautosomal

2 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Dec 2016, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SERPINB8 were set to 27476651

27 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SERPINB8 was created by ellenmcdonagh

27 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINB8 was added to Peeling skin syndromepanel. Sources: Research