Activity

Filter

Cancel
Date Panel Item Activity
5 actions
BabyScreen+ newborn screening v1.88 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
BabyScreen+ newborn screening v1.88 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.88 PSTPIP1 Zornitza Stark Classified gene: PSTPIP1 as Green List (high evidence)
BabyScreen+ newborn screening v1.88 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.87 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to BabyScreen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: PSTPIP1.
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Review for gene: PSTPIP1 was set to GREEN
Added comment: Established gene-disease association.

Onset in childhood.

Treatment: adalimumab and tacrolimus, NSAIDs, corticosteroids, BMT

non-genetic confirmatory testing: no
Sources: Expert list