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  3. USP53
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Deafness_IsolatedAndComplex

Gene: USP53

Amber List (moderate evidence)
USP53 (ubiquitin specific peptidase 53)
EnsemblGeneIds (GRCh38): ENSG00000145390
EnsemblGeneIds (GRCh37): ENSG00000145390
OMIM: 617431, Gene2Phenotype
USP53 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years).

Deafness reported in two families, childhood onset.
Sources: Expert Review
Created: 17 Dec 2021, 12:13 a.m. | Last Modified: 17 Dec 2021, 12:13 a.m.
Panel Version: 1.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658

Publications

Created: 17 Dec 2021, 12:13 a.m.
Last Modified: 17 Dec 2021, 12:13 a.m.
Panel version: 1.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
OMIM
617431
Clinvar variants
Variants in USP53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Dec 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USP53 was added gene: USP53 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP53 were set to 30250217; 32124521; 33075013 Phenotypes for gene: USP53 were set to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 Review for gene: USP53 was set to AMBER