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  2. Infantile enterocolitis & monogenic inflammatory bowel disease
  3. OTULIN
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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 10 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.
Created: 15 Aug 2017, 12:59 p.m.

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: 1.8

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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