Autoinflammatory Disorders
Gene: PSTPIP1
Multiple individuals reported with various combinations of anaemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia/hypercalprotectinemia, neutropaenia, thrombocytopaenia, and elevated inflammatory markers.Created: 16 Apr 2022, 4:52 a.m. | Last Modified: 16 Apr 2022, 4:52 a.m.
Panel Version: 0.141
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Publications
Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome to Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
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; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Publications for gene: PSTPIP1 were set to
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 Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PSTPIP1 was set to Unknown