Severe multi-system atopic disease with high IgE
Gene: SPINK5Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:57 a.m.
Comment on mode of inheritance: Monoallelic mutations associated with atopy but not at a monogenic level of penetrance so don't want to report single mutations.Created: 19 Dec 2016, 1:51 p.m.
Comment on list classification: Netherton syndrome includes atopy and high IgE.Created: 19 Dec 2016, 1:51 p.m.
Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome
This gene has been classified as Green List (High Evidence).
Publications for SPINK5 were set to PMID 11841556
Mode of inheritance for SPINK5 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for SPINK5 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SPINK5 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Emory Genetics Laboratory
SPINK5 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Radboud University Medical Center, Nijmegen