Retinal disorders
Gene: ARL6

ARL6 (ADP ribosylation factor like GTPase 6)
EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 20 panels

2 reviews

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

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:03 a.m.

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 15 Mar 2016, 10:48 a.m.

Created: 15 Mar 2016, 10:48 a.m.

Panel version: 0.20

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Eye Disorders
Bardet-Biedl syndrome 3, 209900
{Bardet-Biedl syndrome 1, modifier of}, 209900
Retinitis pigmentosa 55, 613575
Retinitis Pigmentosa, Recessive

OMIM

608845

Clinvar variants

Variants in ARL6

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ARL6. Rating Changed from Green List (high evidence) to Green List (high evidence)

15 Mar 2016, Gel status: 4