Gastrointestinal epithelial barrier disorders
Gene: OTULIN

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

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert review and supportive literature suggest that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.
Created: 26 Jul 2018, 11:27 a.m.

Created: 26 Jul 2018, 11:27 a.m.

Panel version: 1.35

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.

Created: 15 Aug 2017, 12:59 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 1.10

Owen Siggs (Flinders University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 16 May 2017, 9:10 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 1.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099

OMIM

615712

Clinvar variants

Variants in OTULIN

Penetrance

None

Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099

26 Jul 2018, Gel status: 3