Retinal disorders
Gene: USP45

USP45 (ubiquitin specific peptidase 45)
EnsemblGeneIds (GRCh38): ENSG00000123552
EnsemblGeneIds (GRCh37): ENSG00000123552
USP45 is in 1 panel

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed on 20-03-2026
Created: 20 Mar 2026, 11:45 a.m. | Last Modified: 20 Mar 2026, 11:45 a.m.

Panel Version: 8.100

Created: 20 Mar 2026, 11:45 a.m.
Last Modified: 20 Mar 2026, 11:45 a.m.
Panel version: 8.100

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Created: 21 Dec 2020, 4:26 p.m. | Last Modified: 21 Dec 2020, 4:26 p.m.

Panel Version: 2.36

Created: 21 Dec 2020, 4:26 p.m.
Last Modified: 21 Dec 2020, 4:26 p.m.
Panel version: 2.243

Zornitza Stark (Australian Genomics)

Green List (high evidence)

2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies recapitulate retinal phenotype
Sources: Literature
Created: 23 Apr 2020, 3:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lebers congenital amaurosis; retinal dystrophy

Publications

30573563

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

Created: 23 Apr 2020, 3:32 a.m.

Panel version: 2.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

?Leber congenital amaurosis 19, OMIM:618513

Clinvar variants

Variants in USP45

Penetrance

None

Publications

30573563

Panels with this gene

Retinal disorders

History Filter Activity

20 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, OMIMM:618513 to ?Leber congenital amaurosis 19, OMIM:618513

20 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: USP45.

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: USP45.

8 Mar 2022, Gel status: 3