Ichthyosis and erythrokeratoderma
Gene: SERPINB8Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.Created: 31 Oct 2023, 4:46 p.m. | Last Modified: 31 Oct 2023, 4:46 p.m.
Panel Version: 3.13
Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert listCreated: 5 May 2023, 3:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 5
Publications
Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 to Peeling skin syndrome 5, OMIM:617115
Tag Q4_23_promote_green tag was added to gene: SERPINB8. Tag Q4_23_NHS_review tag was added to gene: SERPINB8.
gene: SERPINB8 was added gene: SERPINB8 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB8 were set to PubMed: 27476651 Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 Penetrance for gene: SERPINB8 were set to unknown Review for gene: SERPINB8 was set to GREEN