Lipodystrophy - childhood onset

Gene: OTULIN

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 10 May 2021, 1:04 p.m. | Last Modified: 10 May 2021, 1:04 p.m.
Panel Version: 2.15

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection.

At least 3 unrelated families reported.
Sources: Expert Review
Created: 27 Apr 2021, 10:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Tags
Q2_21_rating
OMIM
615712
Clinvar variants
Variants in OTULIN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: otulin has been classified as Amber List (Moderate Evidence).

10 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: OTULIN.

5 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

27 Apr 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: OTULIN was added gene: OTULIN was added to Lipodystrophy - childhood onset. Sources: Expert Review Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTULIN were set to 27523608; 27559085 Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Review for gene: OTULIN was set to GREEN gene: OTULIN was marked as current diagnostic