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Systemic Autoinflammatory Disease_Periodic Fever v1.26 PSMB10 Zornitza Stark Publications for gene: PSMB10 were set to 31783057
Systemic Autoinflammatory Disease_Periodic Fever v1.25 PSMB10 Zornitza Stark Classified gene: PSMB10 as Green List (high evidence)
Systemic Autoinflammatory Disease_Periodic Fever v1.25 PSMB10 Zornitza Stark Gene: psmb10 has been classified as Green List (High Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v1.12 PSMB10 Peter McNaughton reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37600812; Phenotypes: CANDLE/PRAAS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Systemic Autoinflammatory Disease_Periodic Fever v0.102 PSMB10 Zornitza Stark Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Systemic Autoinflammatory Disease_Periodic Fever v0.101 PSMB10 Zornitza Stark edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175, Autoinflammatory syndrome
Systemic Autoinflammatory Disease_Periodic Fever v0.76 PSMB10 Zornitza Stark Marked gene: PSMB10 as ready
Systemic Autoinflammatory Disease_Periodic Fever v0.76 PSMB10 Zornitza Stark Gene: psmb10 has been classified as Red List (Low Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v0.76 PSMB10 Zornitza Stark gene: PSMB10 was added
gene: PSMB10 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Autoinflammatory syndrome
Review for gene: PSMB10 was set to RED
Added comment: PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported.
Sources: Literature