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Newborns main panel

Gene: USP53

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 32124521 - 7 families PMID: 38544763 - 3 cases from different families
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.499

Details

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

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: USP53 was added gene: USP53 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USP53 were set to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss