Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: USP45EnsemblGeneIds (GRCh38): ENSG00000123552
EnsemblGeneIds (GRCh37): ENSG00000123552
USP45 is in 3 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: usp45 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: usp45 has been classified as Green List (High Evidence).
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