OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green OTULIN in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.34	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green OTULIN in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green OTULIN in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green OTULIN in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS North West GLH Victorian Clinical Genetics Services Expert Review Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 Fever, diarrhoea, dermatitis Autoinflammatory Disorders
Green OTULIN in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Phenotypes {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986 Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green OTULIN in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Red OTULIN in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green OTULIN in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Otulin-related auto inflammatory syndrome
Red OTULIN in Intellectual disability Level 2: Developmental disorders Version 9.375 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green OTULIN in Autoinflammatory disorders Level 2: Immunology Version 2.39 Latest signed off version: v2.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099