Retinal disorders

Gene: RP9

Green List (high evidence)

I don't know

We have identified a missense change, identical to one reported by Keen et al, in a patient with RP in-house. Jin et al 2011reported a pathogenic effect for this change in vitro, but Maita et al 2004 showed that this variant had no effect on splicing and questioned its pathogenicity. Insufficient evidence to elevate to the green list with any confidence.

Created: 1 Jun 2016, 11:42 a.m.

Publications

• Keen et al (2002) Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. See comment in PubMed Commons below Eur J Hum Genet. Apr
• 10(4):245-9: Identified 2 missense mutations in two unrelated families with ADRP
• Jin et al (2011) Modeling retinal degeneration using patient-specific induced pluripotent stem cells. PLoS One. Feb 1 0
• 6(2):el 7084
• Glockle et al (2014) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.Eur J Hum Genet. Jan
• 22(1):99-104
• Identified single base pair deletion in RBP3

Variants in this GENE are reported as part of current diagnostic practice

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:06 a.m.

Comment on list classification: A reclassified variant (to VUS), and a variant identified in one patient reported on OMIM.

Created: 23 Mar 2016, 10:15 a.m.