Ophthalmological ciliopathies
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

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
268000

Publications

Created: 5 Nov 2017, 2:44 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green on the Bardet-Biedl Syndrome version 1 panel.
Created: 4 Aug 2016, 3:38 p.m.

Created: 4 Aug 2016, 3:38 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Eligibility statement prior genetic testing
Expert list
Expert Review Green

Phenotypes

{Bardet Biedl syndrome 1, modifier of}
Bardet-Biedl Syndrome
268000
Bardet Biedl syndrome 3

OMIM

608845

Clinvar variants

Variants in ARL6

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ARL6 was added gene: ARL6 was added to Ophthalmological ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6 were set to 15258860; 21282186 Phenotypes for gene: ARL6 were set to {Bardet Biedl syndrome 1, modifier of}; Bardet-Biedl Syndrome; 268000; Bardet Biedl syndrome 3

Ophthalmological ciliopathies Gene: ARL6