Retinal disorders
Gene: 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
Phenotypes
Boucher-Neuhauser syndrome, MIM#215470
Publications
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
Tag for-review was removed from gene: PNPLA6.
Source Expert Review Green was added to PNPLA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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