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Retinal disorders

Gene: USP45

No list

USP45 (ubiquitin specific peptidase 45)
EnsemblGeneIds (GRCh38): ENSG00000123552
EnsemblGeneIds (GRCh37): ENSG00000123552
USP45 is in 2 panels

1 review

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Lebers congenital amaurosis
  • retinal dystrophy
  • ?Leber congenital amaurosis 19, 618513
Clinvar variants
Variants in USP45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: USP45 was added gene: USP45 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP45 were set to 30573563 Phenotypes for gene: USP45 were set to Lebers congenital amaurosis; retinal dystrophy Review for gene: USP45 was set to GREEN gene: USP45 was marked as current diagnostic