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Mendeliome

Gene: USP45

Green List (high evidence)

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

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment on list classification: Two unrelated families
Functional studies in animal model recapitulate retinal phenotype
Created: 20 Apr 2020, 3:01 a.m. | Last Modified: 20 Apr 2020, 3:01 a.m.
Panel Version: 0.2364

Kristin Rigbye (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 supported gene-disease association.

PMID: 30573563 "By analysing WES data based on allele frequencies of in-house controls, population allele frequencies and in silico prediction tools, two rare homozygous mutations in USP45 were identified in two unrelated families. Immunohistochemistry of USP45 in the human and zebrafish retinal sections revealed enriched expression in the inner segments of photoreceptors. The knockdown of usp45 transcript in zebrafish led to abnormal retinal development with effects on photoreceptors, which could be successfully rescued by wild-type usp45 mRNA. Moreover, targeted knockout of Usp45 in mice caused abnormal electroretinography responses, similar to that seen in patients with LCA."
Sources: Literature
Created: 20 Apr 2020, 2:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis; retinal dystrophy

Publications

Details

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

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

20 Apr 2020, Gel status: 0

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

Kristin Rigbye (Victorian Clinical Genetics Services)

gene: USP45 was added gene: USP45 was added to Mendeliome. 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 Leber congenital amaurosis; retinal dystrophy Review for gene: USP45 was set to GREEN