Autoinflammatory Disorders

Gene: OTULIN

Green List (high evidence)

Two unrelated patients with the heterozygous mutation p.Cys129Ser presenting with autoinflammatory disease similar to ORAS rather than seen in OTULIN haploinsufficiency (PMID: 35587511),
Extensive functional data supporting dominant negative effect on OTULIN reducing deubiquitinase activity.

Created: 23 Apr 2024, 11:44 p.m. | Last Modified: 23 Apr 2024, 11:44 p.m.

Panel Version: 1.41

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• PMID: 38630025

Green List (high evidence)

Three individuals reported with de novo missense variants and auto inflammatory syndrome. Two had at the same variant, p.Cys129Ser. Experimental data supports dominant negative mechanism. Fourth individual with heterozygous variant in PMID 38129331 and severe fasciitis.

Created: 29 Apr 2024, 7:23 a.m. | Last Modified: 29 Apr 2024, 7:23 a.m.

Panel Version: 1.43

Autoinflammatory disorder presenting in the newborn period with recurrent fever, erythematous rash with painful nodules, painful joints, diarrhoea and lipodystrophy.

Created: 25 Aug 2020, 8:32 a.m. | Last Modified: 25 Aug 2020, 8:32 a.m.

Panel Version: 0.90

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099

Publications

• 27523608
• 27559085
• 38630025
• 38652464
• 38129331