Infantile enterocolitis & monogenic inflammatory bowel disease

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 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status form Grey to Green due to evidence int he literature and expert review comments
Created: 15 Aug 2017, 1:04 p.m.
Comment on phenotypes: updated format
Created: 15 Aug 2017, 12:59 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, 617099
  • AIPDS
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

Louise Daugherty (Genomics England Curator)

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

15 Aug 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, 617099; AIPDS

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 Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Literature