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Systemic Autoinflammatory Disease_Periodic Fever v0.36 USP18 Zornitza Stark changed review comment from: Two unrelated families reported.
Sources: Expert list; to: Three unrelated families reported. Note cryptic 3' deletion identified in one.
Sources: Expert list
Systemic Autoinflammatory Disease_Periodic Fever v0.36 USP18 Zornitza Stark edited their review of gene: USP18: Changed rating: GREEN; Changed phenotypes: Pseudo-TORCH syndrome 2, MIM# 617397
Systemic Autoinflammatory Disease_Periodic Fever v0.36 USP18 Zornitza Stark Marked gene: USP18 as ready
Systemic Autoinflammatory Disease_Periodic Fever v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v0.36 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Systemic Autoinflammatory Disease_Periodic Fever v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v0.35 USP18 Zornitza Stark Classified gene: USP18 as Amber List (moderate evidence)
Systemic Autoinflammatory Disease_Periodic Fever v0.35 USP18 Zornitza Stark Gene: usp18 has been classified as Amber List (Moderate Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v0.34 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 31940699; 27325888
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397
Review for gene: USP18 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list