Lipodystrophy - childhood onset
Gene: OTULINThe 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
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
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
Tag Q2_21_rating was removed from gene: OTULIN.
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)
Gene: otulin has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: OTULIN.
Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
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