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 1.141	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 Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	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
Amber PSMB4 in Lipodystrophy - childhood onset Version 4.50 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Phenotypes ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591 Tags digenic Q3_23_promote_green Q3_23_NHS_review
Green PSMB4 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 1.17 Latest signed off version: v1.0 (30 Nov 2022)	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