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Cholestasis v1.105 USP53 Ivone Leong Tag for-review was removed from gene: USP53.
Cholestasis v1.105 USP53 Ivone Leong commented on gene: USP53: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Cholestasis v1.104 USP53 Ivone Leong Source Expert Review Green was added to USP53.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cholestasis v1.27 USP53 Ivone Leong commented on gene: USP53: There is enough evidence to support a gene-disease association. This gene will be promoted to Green status at the next review.
Cholestasis v1.27 USP53 Ivone Leong Tag for-review tag was added to gene: USP53.
Cholestasis v1.27 USP53 Ivone Leong Publications for gene: USP53 were set to 30250217; 32124521
Cholestasis v1.26 USP53 Ivone Leong Phenotypes for gene: USP53 were changed from Paediatric cholestatic liver disease to Paediatric cholestatic liver disease; Cholestasis; deafness
Cholestasis v1.25 USP53 Ivone Leong Publications for gene: USP53 were set to 30250217
Cholestasis v1.3 USP53 Zornitza Stark reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 32124521; Phenotypes: Cholestasis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cholestasis v0.26 USP53 Ivone Leong Phenotypes for gene: USP53 were changed from to Paediatric cholestatic liver disease
Cholestasis v0.25 USP53 Ivone Leong Mode of inheritance for gene: USP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.22 USP53 Ivone Leong Classified gene: USP53 as Amber List (moderate evidence)
Cholestasis v0.22 USP53 Ivone Leong Added comment: Comment on list classification: Demoted to amber as awaiting further evidence.
Cholestasis v0.22 USP53 Ivone Leong Gene: usp53 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.6 USP53 Ivone Leong Publications for gene: USP53 were set to
Cholestasis v0.5 USP53 Anna de Burca reviewed gene: USP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30250217; Phenotypes: Paediatric cholestatic liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.4 USP53 Ivone Leong Source Expert Review Green was added to USP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.3 USP53 Ivone Leong reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 USP53 Ivone Leong gene: USP53 was added
gene: USP53 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: USP53 was set to