Genomics England
GMS Panels
Panels
Genes and Entities

PSTPIP1

proline-serine-threonine phosphatase interacting protein 1
OMIM: 606347
PanelMode of inheritanceDetails
2 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416, Destructive arthritis, inflammatory skin rash, myositis, Hyperzincaemia hypercalprotectinaemia, Autoinflammatory Disorders