Epidermolysis bullosa and congenital skin fragilityGene: SPINK5
Well-established gene-disease association (144 families with homozygous/compound heterozygous variants reviewed in PMID: 27905021). However, the classical presentation is with severe congenital ichthyosis and hair abnormalities. I cannot find evidence of blistering/skin fragility being reported.
Created: 11 Aug 2020, 2:07 a.m. | Last Modified: 11 Aug 2020, 2:07 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Netherton syndrome (MIM#256500)
Following discussion with the Genomics England clinical team SPINK5 can be classified as Green.
Created: 4 Dec 2019, 10:34 a.m. | Last Modified: 4 Dec 2019, 10:34 a.m.
Panel Version: 0.24
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:SPINK5; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15
Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
Publications for gene: SPINK5 were set to
Gene: spink5 has been classified as Green List (High Evidence).
gene: SPINK5 was added gene: SPINK5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal