PSMA3

proteasome subunit alpha 3
OMIM: 176843, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber PSMA3 in COVID-19 research Level 2: Viral research Version 1.146	review	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)
Amber PSMA3 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources Expert Review Amber North West GLH London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Amber PSMA3 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 Amber NHS GMS Expert list Phenotypes Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome) Tags digenic