Generalised pustular psoriasis
Gene: AP1S3

AP1S3 (adaptor related protein complex 1 sigma 3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000152056
EnsemblGeneIds (GRCh37): ENSG00000152056
OMIM: 615781, Gene2Phenotype
AP1S3 is in 3 panels

3 reviews

catherine smith (Guys and St Thomas' NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two variants reported to date (4th November 2016), one of which found in association with a IL36RN p.Ser113Leu
Created: 4 Nov 2016, 2:49 p.m.

Created: 4 Nov 2016, 2:49 p.m.

Panel version: 0.37

Francesca Capon (King's College London)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

24791904

Created: 15 Dec 2015, 9:33 p.m.

Panel version: 0.18

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

{Psoriasis 15, pustular, susceptibility to} 616106

Tags

monogenic-polygenic

OMIM

615781

Clinvar variants

Variants in AP1S3

Penetrance

Complete

Publications

Panels with this gene