Retinal disorders

Gene: PNPLA6

Green List (high evidence)

Choreoretinal dystrophy is part of the phenotype, multiple families reported.

Created: 13 Oct 2020, 7:37 a.m. | Last Modified: 13 Oct 2020, 7:37 a.m.

Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Boucher-Neuhauser syndrome, MIM#215470

Publications

• 24355708
• 25033069

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 OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.

Created: 8 Jan 2021, 1:19 p.m. | Last Modified: 8 Jan 2021, 1:19 p.m.

Panel Version: 2.113

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