PDE6B Chromosome 4

Phosphodiesterase 6B
226 variants 226 Health Risk

Upload your DNA to see your personal genotypes for variants in PDE6B.

What This Gene Does
Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000133256
Associated Conditions (19)
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Retinal dystrophy
Inborn genetic diseases
PDE6B-related disorder
Retinitis pigmentosa 40
Clear cell carcinoma of kidney
High myopia
Autosomal recessive retinitis pigmentosa
Progressive cone dystrophy (without rod involvement)
Rod-cone dystrophy
See cases
Cone-rod dystrophy
Thyroid cancer
nonmedullary
1
Leber congenital amaurosis
Congenital Stationary Night Blindness
Dominant
Key Variants
RS111504036
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
Health Risk
RS113246945
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinal dystrophy
Health Risk
RS114100439
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
Health Risk
RS115775983
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinal dystrophy
Health Risk
RS1302387853
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1305642045
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138423108
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS138682290
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
Health Risk
RS138789637
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
Health Risk
RS140224236
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinal dystrophy
Health Risk
RS140441389
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141647790
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Inborn genetic diseases
Health Risk
All Variants (226)
RSID Category Clinical Significance Conditions
RS369980987 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Inborn genetic diseases
RS370169775 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS370605672 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS371911345 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa
RS374156343 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, PDE6B-related disorder, Retinal dystrophy
RS374527841 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS376883350 Health Risk Conflicting classifications of pathogenicity —
RS398123299 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Congenital stationary night blindness autosomal dominant 2
RS537263212 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS539768252 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Inborn genetic diseases
RS555600300 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 40, PDE6B-related disorder
RS574098823 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, High myopia
RS575639886 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS576895229 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS577140751 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS61733857 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS62295357 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS727504074 Health Risk Conflicting classifications of pathogenicity —
RS74411086 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases, PDE6B-related disorder
RS746211772 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS749657417 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 40
RS750323428 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS750599200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS752429712 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS752846577 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Retinal dystrophy
RS752968664 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS753277194 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS754298712 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS757030384 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760042062 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa 40
RS760766981 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 40, Congenital stationary night blindness autosomal dominant 2
RS762518208 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768652560 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS768939011 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Inborn genetic diseases
RS769147926 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS774268095 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS775561306 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779085612 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS779281806 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779474710 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS780521818 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Retinitis pigmentosa 40
RS781251175 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Inborn genetic diseases
RS781658083 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS80344633 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS977903615 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1174120641 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1215766333 Health Risk Likely pathogenic —
RS1305333312 Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1316718953 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1319627398 Health Risk Likely pathogenic —
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