Periodic fever syndromesGene: OTULIN
Comment on list classification: Updated rating from Grey to Green: Gene added and rated Green by Owen Siggs. 3 unrelated cases of OTULIN variants causing MIM:617099 from PMID:27523608 and PMID:27559085. Confirmed DD-G2P for ORAS syndrome (alternative name for MIM:617099). Symptoms of MIM:617099 include recurrent fevers.
Created: 15 Aug 2017, 1:01 p.m.
PMID:27559085 (Zhou et al 2016) report 2 missense and 1 frameshift mutation in OTULIN in one Pakistani family and 2 Turkish families. The Pakistani family is the same family that is reported in PMID:27523608.
Created: 15 Aug 2017, 1 p.m.
PMID:27523608 (Damgaard et al, 2016) report 3 affected members of a consanguineous Pakistani family with MIM:617099.
Created: 15 Aug 2017, 12:59 p.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM and DD-G2P.
Created: 15 Aug 2017, 12:33 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) (617099); Otulin-related autoinflammatry syndrome (ORAS)
Mode of inheritance for OTULIN was changed to BIALLELIC, autosomal or pseudoautosomal
OTULIN was created by osiggs
OTULIN was added to Periodic fever syndromespanel. Sources: Literature