Activity

Filter

Cancel
Date Panel Item Activity
17 actions
Congenital disorders of glycosylation v6.10 FUK Arina Puzriakova Tag watchlist was removed from gene: FUK.
Tag Q3_24_promote_green was removed from gene: FUK.
Congenital disorders of glycosylation v6.10 FUK Arina Puzriakova reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v6.9 FUK Arina Puzriakova Source Expert Review Green was added to FUK.
Source NHS GMS was added to FUK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK.
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence)
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported and hence this gene can be promoted to green rating in the next GMS update.
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v5.7 FUK Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518
Congenital disorders of glycosylation v5.6 FUK Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.39 FUK Sarah Leigh Phenotypes for gene: FUK were changed from Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh edited their review of gene: FUK: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three variants reported in two unrelated cases.; Changed rating: AMBER
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh Classified gene: FUK as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh Tag watchlist tag was added to gene: FUK.
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh commented on gene: FUK
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh Tag new-gene-name tag was added to gene: FUK.
Congenital disorders of glycosylation v2.14 FUK Zornitza Stark gene: FUK was added
gene: FUK was added to Congenital disorders of glycosylation. Sources: Expert list
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324
Review for gene: FUK was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list