Retinal disorders

Gene: PRDM13

Green List (high evidence)

Variants in a DNase hypersensitivity region upstream of PRDM13 and duplications of the gene cause the condition. May not be tractable by all NGS assays. The mechanism of disease is reported to be gain-of-function.

Created: 13 Oct 2020, 7:52 a.m. | Last Modified: 13 Oct 2020, 7:52 a.m.

Panel Version: 2.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular dystrophy, North Carolina type MIM#136550

Publications

• 29258872
• 28973654
• 26507665
• 30710461

Mode of pathogenicity
Other

I don't know

The 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

This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.

Created: 27 Jan 2021, 10:49 a.m. | Last Modified: 27 Jan 2021, 10:49 a.m.

Panel Version: 2.137

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.

Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5