Periodic fever syndromes
Gene: OTULINEnsemblGeneIds (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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
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- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
- OMIM
- 615712
- Clinvar variants
- Variants in OTULIN
- Penetrance
- Complete
- Publications
- Panels with this gene
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- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Lipodystrophy - childhood onset
- Intellectual disability
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Periodic fever syndromes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) (617099); Otulin-related autoinflammatry syndrome (ORAS) to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
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)
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for OTULIN was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Owen Siggs (Flinders University)OTULIN was created by osiggs
Added New Source
Owen Siggs (Flinders University)OTULIN was added to Periodic fever syndromespanel. Sources: Literature