Congenital stationary night blindness autosomal dominant 3: genes and variants

Genes linked to Congenital stationary night blindness autosomal dominant 3

• GNAT1: Guanine nucleotide-binding protein G(t) subunit alpha-1

  It transduces the light-activated rhodopsin signal in rod photoreceptors, activating phosphodiesterase and lowering cGMP to initiate visual responses. Pathogenic variants can cause congenital stationary night blindness or autosomal dominant rod-cone degeneration.

  4 disease-causing and 9 uncertain variants in GNAT1 are linked to Congenital stationary night blindness autosomal dominant 3.

• RHO: Rhodopsin

  Photon absorption converts its retinal chromophore and triggers the G-protein cascade that initiates rod phototransduction. Pathogenic variants are a major cause of autosomal dominant retinitis pigmentosa and can also cause congenital stationary night blindness.

  3 disease-causing and 14 uncertain variants in RHO are linked to Congenital stationary night blindness autosomal dominant 3.

• PDE6B: Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

  It hydrolyzes cyclic GMP after light activation in rod photoreceptors, causing cyclic-nucleotide-gated channels to close and initiating the electrical visual response. Biallelic loss-of-function variants cause retinitis pigmentosa, while certain variants can cause congenital stationary night blindness.

  1 disease-causing and 42 uncertain variants in PDE6B are linked to Congenital stationary night blindness autosomal dominant 3.

• ABCA4: Retinal-specific phospholipid-transporting ATPase ABCA4

  It flips retinal-derived lipid adducts across photoreceptor disc membranes so they can be cleared during the visual cycle. Biallelic loss-of-function variants cause Stargardt disease and can also produce cone-rod dystrophy or retinitis pigmentosa.

  1 disease-causing and 0 uncertain variants in ABCA4 are linked to Congenital stationary night blindness autosomal dominant 3.

Weakly linked (only a few uncertain records): RLBP1.

Known disease-causing variants in Congenital stationary night blindness autosomal dominant 3

Which prediction tools work for Congenital stationary night blindness autosomal dominant 3

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• PolyPhen-2: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CATVariant: 90 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 89 out of 100

Same protein, different disease

• Retinitis pigmentosa is also caused by RHO variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (65 disease-causing).
• Pigmentary retinal dystrophy is also caused by RHO variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (5 disease-causing).
• Retinal disorder is also caused by RHO variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (3 disease-causing).
• Retinitis pigmentosa is also caused by PDE6B variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (15 disease-causing).
• Severe early-childhood-onset retinal dystrophy is also caused by ABCA4 variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (148 disease-causing).
• ABCA4-related retinopathy is also caused by ABCA4 variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (60 disease-causing).
• Retinitis pigmentosa is also caused by ABCA4 variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (58 disease-causing).
• Stargardt disease is also caused by ABCA4 variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (41 disease-causing).
• Age related macular degeneration 9 is also caused by ABCA4 variants; they fall mostly in different places as the Congenital stationary night blindness autosomal dominant 3 variants (41 disease-causing).

Diseases related to Congenital stationary night blindness autosomal dominant 3

• Retinitis pigmentosa, also linked to ABCA4, GNAT1, PDE6B and RHO
• Retinal disorder, also linked to ABCA4 and RHO
• Autosomal recessive retinitis pigmentosa, also linked to ABCA4 and PDE6B
• Leber congenital amaurosis, also linked to ABCA4
• Severe early-childhood-onset retinal dystrophy, also linked to ABCA4
• ABCA4-related retinopathy, also linked to ABCA4
• Stargardt disease, also linked to ABCA4
• Cone-rod dystrophy, also linked to ABCA4
• Age related macular degeneration 9, also linked to ABCA4
• Optic atrophy, also linked to ABCA4
• Pigmentary retinal dystrophy, also linked to RHO
• Isolated macular dystrophy, also linked to ABCA4

Frequently asked questions

Which genes are linked to Congenital stationary night blindness autosomal dominant 3?

In CATVariant, Congenital stationary night blindness autosomal dominant 3 is linked to 4 analyzed proteins: GNAT1 (Guanine nucleotide-binding protein G(t) subunit alpha-1), RHO (Rhodopsin), PDE6B (Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta) and ABCA4 (Retinal-specific phospholipid-transporting ATPase ABCA4).

How many genetic variants are linked to Congenital stationary night blindness autosomal dominant 3?

87 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 66 are of uncertain significance or have conflicting reports.

Which uncertain variants in Congenital stationary night blindness autosomal dominant 3 look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Congenital stationary night blindness autosomal dominant 3?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.89, based on 8 disease-causing and 52 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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