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Retinal disorders

Gene: ABCC6

Green List (high evidence)

ABCC6 (ATP binding cassette subfamily C member 6)
EnsemblGeneIds (GRCh38): ENSG00000091262
EnsemblGeneIds (GRCh37): ENSG00000091262
OMIM: 603234, Gene2Phenotype
ABCC6 is in 11 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

PXE is often first seen in the retinal clinic, manifesting as a macular dystrophy
Created: 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)

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • Pseudoxanthoma elasticum, OMIM:264800
  • inherited pseudoxanthoma elasticum, MONDO:0100091
OMIM
603234
Clinvar variants
Variants in ABCC6
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: ABCC6.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ABCC6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Dec 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ABCC6.

21 Dec 2020, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ABCC6 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2020, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, OMIM:264800; inherited pseudoxanthoma elasticum, MONDO:0100091

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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