SERPINB8

serpin family B member 8
OMIM: 601697, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SERPINB8 in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.4

review 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
Amber SERPINB8 in Ichthyosis and erythrokeratoderma


Version 3.22
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review
Green SERPINB8 in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Amber SERPINB8 in Palmoplantar keratodermas


Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review