Retinal disorders
Gene: PRDM13
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
Mode of pathogenicity
Other
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
Tag for-review was removed from gene: PRDM13.
Source Expert Review Green was added to PRDM13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PRDM13.
Mode of pathogenicity for gene: PRDM13 was changed from to Other
Mode of inheritance for gene: PRDM13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRDM13 were changed from to North Carolina macular dystrophy, MONDO:0007630
Publications for gene: PRDM13 were set to
gene: PRDM13 was added gene: PRDM13 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PRDM13 was set to