Limb disorders
Gene: ARL6Comment 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 panelCreated: 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.
Gene: arl6 has been classified as Green List (High Evidence).
Eleanor Williams: ARL6 (also known as BBS3) is a
Gene: arl6 has been removed from the panel.
Source Expert Review Removed was added to ARL6. Rating Changed from Green List (high evidence) to No List (delete)
Gene: arl6 has been classified as Green List (High Evidence).
Phenotypes for gene: ARL6 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 3 600151
Publications for gene: ARL6 were set to
Mode of inheritance for gene: ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: arl6 has been classified as Green List (High Evidence).
ARL6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
ARL6 was created by Ellen McDonagh