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Cholestasis v2.3 GBE1 Catherine Snow Tag Q1_22_NHS_review was removed from gene: GBE1.
Tag Q2_22_rating was removed from gene: GBE1.
Tag Q2_22_expert_review was removed from gene: GBE1.
Cholestasis v2.3 GBE1 Catherine Snow reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v2.2 GBE1 Catherine Snow Source NHS GMS was added to GBE1.
Source Expert Review Amber was added to GBE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cholestasis v1.107 GBE1 Ivone Leong Tag Q2_22_rating tag was added to gene: GBE1.
Tag Q2_22_expert_review tag was added to gene: GBE1.
Cholestasis v1.105 GBE1 Ivone Leong Tag for-review was removed from gene: GBE1.
Cholestasis v1.105 GBE1 Ivone Leong commented on gene: GBE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.104 GBE1 Ivone Leong Source Expert Review Green was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.103 GBE1 Ivone Leong Tag Q1_22_NHS_review tag was added to gene: GBE1.
Cholestasis v1.102 GBE1 Ivone Leong Publications for gene: GBE1 were set to 8613547
Cholestasis v1.100 GBE1 Miranda Durkie reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301758; Phenotypes: Polyglucosan body disease, adult form; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v1.74 GBE1 Ivone Leong Tag for-review tag was added to gene: GBE1.
Cholestasis v1.74 GBE1 Ivone Leong reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v1.73 GBE1 Ivone Leong gene: GBE1 was added
gene: GBE1 was added to Cholestasis. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 8613547
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, OMIM:232500