Gastrointestinal epithelial barrier disorders


Green List (high evidence)

OTULIN (OTU deubiquitinase with linear linkage specificity)
EnsemblGeneIds (GRCh38): ENSG00000154124
EnsemblGeneIds (GRCh37): ENSG00000154124
OMIM: 615712, Gene2Phenotype
OTULIN is in 11 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.

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

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


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

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: otulin has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 1

Set mode of inheritance

Olivia Niblock (Genomics England Curator)

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

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

OTULIN was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list

17 Apr 2018, Gel status: 1


Olivia Niblock (Genomics England Curator)

OTULIN was created by Olivia Niblock