Retinal disorders
Gene: USP45The 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
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: 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
Tag gene-checked tag was added to gene: USP45.
Tag for-review was removed from gene: USP45.
Source Expert Review Green was added to USP45. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: usp45 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: USP45.
Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, 618513 to Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, OMIMM:618513
Phenotypes for gene: USP45 were changed from Lebers congenital amaurosis; retinal dystrophy to Lebers congenital amaurosis; retinal dystrophy; ?Leber congenital amaurosis 19, 618513
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