Periodic fever syndromes
Gene: PSTPIP1Comment on list classification: PAPA classed as inherited fever syndrome by the Royal Free Periodic Service. Also listed as a differential on GeneReviewsCreated: 2 Feb 2017, 10:49 a.m.
Comment on list classification: Updated rating from Red to Amber ready for further review.Created: 16 Jan 2017, 4:57 p.m.
PAPA syndrome (OMIM:604416) and familial Mediterranean fever (FMF, OMIM:249100) are disorders arising from defects within the same pathway (PMID:14595024).Created: 16 Jan 2017, 4:55 p.m.
Comment on mode of inheritance: Mode of inheritance sourced from OMIM.Created: 16 Jan 2017, 4:54 p.m.
Phenotypes for gene: PSTPIP1 were changed from Hereditary Periodic Fever Syndromes; PAPA syndrome; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Publications for PSTPIP1 were set to 1197187; 20301405
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for PSTPIP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene PSTPIP1 were set to Hereditary Periodic Fever Syndromes; PAPA syndrome; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416
PSTPIP1 was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory