OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green OTULIN in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.122 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Green OTULIN in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Green OTULIN in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099 Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Green OTULIN in Phagocyte Defects Level 2: Immunological disorders Version 1.33 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Green OTULIN in Autoinflammatory Disorders Level 2: Immunological disorders Version 2.3 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099
No list OTULIN in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature
Green OTULIN in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Tags treatable immunological