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ARL6

ADP ribosylation factor like GTPase 6

HCNC Approved Symbol
ARL6 (HGNC:13210)
Genomic Coordinates
3:97,764,521 - 97,801,242 (3q11.2)
Synonyms
RP55, BBS3
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Bardet-Biedl syndrome 1, modifier of}
209900AR; Digenic recessive
Bardet-Biedl syndrome 3
600151AR
Retinitis pigmentosa 55
613575AR

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the ARL6 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Cone dystrophy
 2 (33.3%)
Cone-rod dystrophy
 1 (16.7%)
Polycystic ovaries
 1 (16.7%)
Decreased visual acuity
 1 (16.7%)
Metamorphopsia
 1 (16.7%)