Limb disorders

Gene: ARL6

Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.

Created: 25 Nov 2019, 5:12 p.m. | Last Modified: 25 Nov 2019, 5:12 p.m.

Panel Version: 1.66

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.