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Severe multi-system atopic disease with high IgE

Gene: SPINK5

Green List (high evidence)

SPINK5 (serine peptidase inhibitor, Kazal type 5)
EnsemblGeneIds (GRCh38): ENSG00000133710
EnsemblGeneIds (GRCh37): ENSG00000133710
OMIM: 605010, Gene2Phenotype
SPINK5 is in 7 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:57 a.m.

Ellen Thomas (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Netherton syndrome, 256500Atopy, 147050
  • Netherton syndrome
Tags
gene-therapy-trial
OMIM
605010
Clinvar variants
Variants in SPINK5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

19 Dec 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for SPINK5 were set to PMID 11841556

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SPINK5 was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SPINK5 was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SPINK5 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SPINK5 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Radboud University Medical Center, Nijmegen