Bone Marrow Failure
Gene: PSTPIP1
Cytopaenias attributable to sulfonamide medicationsCreated: 14 Sep 2020, 4:05 a.m. | Last Modified: 14 Sep 2020, 4:05 a.m.
Panel Version: 0.113
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Gene: pstpip1 has been classified as Green List (High Evidence).
Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: PSTPIP1 was added gene: PSTPIP1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PSTPIP1 was set to Unknown