Periodic fever syndromes

Gene: OTULIN

Green List (high evidence)

OTULIN (OTU deubiquitinase with linear linkage specificity)
EnsemblGeneIds (GRCh38): ENSG00000154124
EnsemblGeneIds (GRCh37): ENSG00000154124
OMIM: 615712, Gene2Phenotype
OTULIN is in 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

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.

Owen Siggs (Flinders University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) (617099)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) (617099)
  • Otulin-related autoinflammatry syndrome (ORAS)
OMIM
615712
Clinvar variants
Variants in OTULIN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) (617099); Otulin-related autoinflammatry syndrome (ORAS)

15 Aug 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for OTULIN was changed to BIALLELIC, autosomal or pseudoautosomal

16 May 2017, Gel status: 0

Created

Owen Siggs (Flinders University)

OTULIN was created by osiggs

16 May 2017, Gel status: 0

Added New Source

Owen Siggs (Flinders University)

OTULIN was added to Periodic fever syndromespanel. Sources: Literature