Lipodystrophy - childhood onset
Gene: OTULINEnsemblGeneIds (GRCh38): ENSG00000154124
EnsemblGeneIds (GRCh37): ENSG00000154124
OMIM: 615712, Gene2Phenotype
OTULIN is in 10 panels
3 reviews
Catherine Snow (Genomics England)
The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 4:55 p.m. | Last Modified: 31 Jan 2023, 4:55 p.m.
Panel Version: 3.3
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)
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 ReviewCreated: 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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
- OMIM
- 615712
- Clinvar variants
- Variants in OTULIN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Lipodystrophy - childhood onset
- Intellectual disability
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Periodic fever syndromes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
History Filter Activity
Removed Tag
Catherine Snow (Genomics England)Tag Q2_21_rating was removed from gene: OTULIN.
Added New Source, Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to OTULIN. Source NHS GMS was added to OTULIN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: otulin has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: OTULIN.
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
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