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Limb disorders

Gene: ARL6

No list

ARL6 (ADP ribosylation factor like GTPase 6)
EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 21 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:37 p.m.
Comment when marking as ready: Sufficient evidence to rate green.
Created: 16 Oct 2018, 3:10 p.m.
Note: also green on Rare multisystem ciliopathy disorders panel
Created: 16 Oct 2018, 3:07 p.m.
Comment on list classification: Rated green as variants in the ARL6 gene is associated with Bardet-Biedl syndrome 3 in more than cases/families.
Created: 3 Oct 2018, 4:03 p.m.
ARL6 (also known as BBS3) is associated with Bardet-Biedl syndrome 3 in OMIM and has a confirmed association in Gene2Phenotype. Bardet-Biedl syndrome 3 is characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity.

Chiang et al 2004 (PMID: 15258860) report sequencing of the ARL6 gene in a large Israeli-Bedouin family with 13 affected individuals. ARL6 contains a homozygous stop mutation that segregates completely with the disease in the Bedouin kindred. All patients showed polydactyly (Sheffield et al. 1994 (PMID: 7987310).

Fan et al. (2004) (PMID: 15314642) found mutations in the ARL6 gene that segregated with BBS3 in 4 independent families.

Safieh et al. (2010) (PMID: 19858128) found 3 mutations in the BBS3 gene (ARL6) in consanguineous Saudi Arabian families with BBS3.

Forsythe & Beales 2013 report that the presence of polydactyly in individuals with Bardet-Biedl syndrome from all causes ranges from 68% to 81%.
Created: 3 Oct 2018, 12:36 p.m.

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: ARL6 (also known as BBS3) is a

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: arl6 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to ARL6. Rating Changed from Green List (high evidence) to No List (delete)

16 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: arl6 has been classified as Green List (High Evidence).

3 Oct 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ARL6 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 3 600151

3 Oct 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ARL6 were set to

3 Oct 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: arl6 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ARL6 was created by Ellen McDonagh