Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: USP45

Green List (high evidence)

USP45 (ubiquitin specific peptidase 45)
EnsemblGeneIds (GRCh38): ENSG00000123552
EnsemblGeneIds (GRCh37): ENSG00000123552
USP45 is in 3 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

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: 20 Apr 2020, 3:05 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
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Lebers congenital amaurosis
Clinvar variants
Variants in USP45
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp45 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: usp45 has been classified as Green List (High Evidence).

22 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: USP45 was added gene: USP45 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. 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