Retinal disorders
Gene: ABCC6
Well established gene-disease association with PXE. Affected individuals commonly exhibit characteristic lesions of the posterior segment of the eye, including peau d'orange, angioid streaks, and choroidal neovascularizations (CNVs). These can be an early sign of the disorder.Created: 10 Oct 2020, 5:12 a.m. | Last Modified: 10 Oct 2020, 5:12 a.m.
Panel Version: 2.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum, MIM#264800
PXE is often first seen in the retinal clinic, manifesting as a macular dystrophyCreated: 30 Mar 2020, 9:45 a.m. | Last Modified: 30 Mar 2020, 9:45 a.m.
Panel Version: 2.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PSEUDOXANTHOMA ELASTICUM (PXE)
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. Based on the evidence and expert reviews, this gene should be promoted to Green at the next review.Created: 21 Dec 2020, 4:35 p.m. | Last Modified: 21 Dec 2020, 4:35 p.m.
Panel Version: 2.38
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: ABCC6.
Source Expert Review Green was added to ABCC6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: ABCC6.
Mode of inheritance for gene: ABCC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, OMIM:264800; inherited pseudoxanthoma elasticum, MONDO:0100091
gene: ABCC6 was added gene: ABCC6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ABCC6 was set to