C8ORF37 — Chromosome 8 Open Reading Frame 37

Illustration of the eye cross-section showing the retina at the back of the eye
Illustration of the eye cross-section showing the retina at the back of the eye

C8ORF37 (BBS21) encodes a ciliary protein whose exact function remains under investigation. Mutations cause both Bardet-Biedl syndrome type 21 and non-syndromic retinitis pigmentosa (RP64) as well as cone-rod dystrophy, demonstrating broad phenotypic variability.

Gene description: C8ORF37 (BBS21) encodes a ciliary protein whose exact function remains under investigation. Mutations cause both Bardet-Biedl syndrome type 21 and non-syndromic retinitis pigmentosa (RP64) as well as cone-rod dystrophy, demonstrating broad phenotypic variability.

Clinical significance: Mutations cause BBS21, non-syndromic RP64, and cone-rod dystrophy. One of the BBS genes with the broadest phenotypic spectrum from isolated retinal disease to full syndromic BBS.

Inheritance: Autosomal Recessive