Retinal disordersGene: PNPLA6
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
Boucher-Neuhauser syndrome, MIM#215470
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
Mode of inheritance for gene: PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag for-review tag was added to gene: PNPLA6.
Phenotypes for gene: PNPLA6 were changed from to Boucher-Neuhauser syndrome, OMIM:215470; Oliver-McFarlane syndrome, OMIM:275400; ?Laurence-Moon syndrome, OMIM:245800
Publications for gene: PNPLA6 were set to
gene: PNPLA6 was added gene: PNPLA6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PNPLA6 was set to