Gaze palsy, familial horizontal, with progressive scoliosis, 2: genes and variants
Gaze palsy, familial horizontal, with progressive scoliosis, 2 is linked to 1 analyzed protein (DCC). 1 DNA variants are known to cause it; 3 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Gaze palsy, familial horizontal, with progressive scoliosis, 2
DCC: Netrin receptor DCC
It guides developing axons in response to netrin signals and helps establish long-range neural connections across the midline. Heterozygous pathogenic variants can cause congenital mirror movements, while biallelic or severe variants can produce complex neurodevelopmental syndromes.
1 disease-causing and 3 uncertain variants in DCC are linked to Gaze palsy, familial horizontal, with progressive scoliosis, 2.
Known disease-causing variants in Gaze palsy, familial horizontal, with progressive scoliosis, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DCC E1404K | 1404 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Corpus callosum, agenesis of is also caused by DCC variants; they fall mostly in different places as the Gaze palsy, familial horizontal, with progressive scoliosis, 2 variants (6 disease-causing).
Diseases related to Gaze palsy, familial horizontal, with progressive scoliosis, 2
- Carcinoma of colon, also linked to DCC
- Corpus callosum, agenesis of, also linked to DCC
- Mirror movements 1, also linked to DCC
Frequently asked questions
Which genes are linked to Gaze palsy, familial horizontal, with progressive scoliosis, 2?
In CATVariant, Gaze palsy, familial horizontal, with progressive scoliosis, 2 is linked to 1 analyzed protein: DCC (Netrin receptor DCC).
How many genetic variants are linked to Gaze palsy, familial horizontal, with progressive scoliosis, 2?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Gaze palsy, familial horizontal, with progressive scoliosis, 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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