Cholestasis

Gene: USP53

Green List (high evidence)

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

• 30250217
• 32124521

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

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

• PMID: 30250217

Green List (high evidence)

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 given

Created: 7 Jan 2019, 4:42 p.m.