Cholestasis
Gene: USP53
8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.Created: 2 May 2020, 2:16 a.m. | Last Modified: 2 May 2020, 2:16 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; deafness
Publications
Variants in this GENE are reported as part of current diagnostic practice
Single case with homozygous truncating variant in USP53. Insufficient evidence at present.Created: 11 Jan 2019, 1:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Paediatric cholestatic liver disease
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
There is enough evidence to support a gene-disease association. This gene will be promoted to Green status at the next review.Created: 6 Oct 2020, 2:46 p.m. | Last Modified: 6 Oct 2020, 2:46 p.m.
Panel Version: 1.27
Comment on list classification: Demoted to amber as awaiting further evidence.Created: 4 Feb 2019, 11:23 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: UPS53; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
Tag for-review was removed from gene: USP53.
Source Expert Review Green was added to USP53. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: USP53.
Publications for gene: USP53 were set to 30250217; 32124521
Phenotypes for gene: USP53 were changed from Paediatric cholestatic liver disease to Paediatric cholestatic liver disease; Cholestasis; deafness
Publications for gene: USP53 were set to 30250217
Phenotypes for gene: USP53 were changed from to Paediatric cholestatic liver disease
Mode of inheritance for gene: USP53 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: usp53 has been classified as Amber List (Moderate Evidence).
Publications for gene: USP53 were set to
Source Expert Review Green was added to USP53. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: USP53 was added gene: USP53 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: USP53 was set to