Cholestasis

Gene: USP53

Amber List (moderate evidence)

USP53 (ubiquitin specific peptidase 53)
EnsemblGeneIds (GRCh38): ENSG00000145390
EnsemblGeneIds (GRCh37): ENSG00000145390
OMIM: 617431, Gene2Phenotype
USP53 is in 1 panel

3 reviews

Zornitza Stark (Australian Genomics)

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

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

Anna de Burca (Genomics England Curator)

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Paediatric cholestatic liver disease
  • Cholestasis
  • deafness
Tags
for-review
OMIM
617431
Clinvar variants
Variants in USP53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: USP53.

6 Oct 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: USP53 were set to 30250217; 32124521

6 Oct 2020, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: USP53 were changed from Paediatric cholestatic liver disease to Paediatric cholestatic liver disease; Cholestasis; deafness

6 Oct 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: USP53 were set to 30250217

3 Sep 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: USP53 were changed from to Paediatric cholestatic liver disease

3 Sep 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: USP53 was changed from to BIALLELIC, autosomal or pseudoautosomal

4 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: usp53 has been classified as Amber List (Moderate Evidence).

14 Jan 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: USP53 were set to

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to USP53. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: USP53 was added gene: USP53 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: USP53 was set to