PSMB4

proteasome subunit beta 4
OMIM: 602177, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber PSMB4 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS North West GLH Victorian Clinical Genetics Services Expert Review Amber North West GLH London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Amber PSMB4 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber North West GLH London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591 CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) Tags digenic
Green PSMB4 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 Expert Review Green NHS GMS Expert list Phenotypes ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591 Tags digenic
Green PSMB4 in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591 Tags digenic