PSMB9

proteasome subunit beta 9
OMIM: 177045, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber PSMB9 in COVID-19 research Level 2: Viral research Version 1.142	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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) Autoinflammation, lipodystrophy, and dermatosis syndrome
Amber PSMB9 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber North West GLH London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591 CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) Tags digenic
Green PSMB9 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 2.1 Latest signed off version: v2.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591 Tags digenic