Oculodentodigital dysplasia: genes and variants

Genes linked to Oculodentodigital dysplasia

• GJA1: Gap junction alpha-1 protein

  It forms connexin 43 gap junctions that permit direct electrical and metabolic communication between neighboring cells in heart, bone, skin, and many other tissues. Pathogenic variants cause oculodentodigital dysplasia and related syndromes with craniofacial, dental, limb, and sometimes cardiac abnormalities.

  37 disease-causing and 110 uncertain variants in GJA1 are linked to Oculodentodigital dysplasia.

Where Oculodentodigital dysplasia variants cluster

• GJA1 Cytoplasmic (positions 2–23): 8 of 37 disease-causing changes, 3.8× more than its size predicts.
• GJA1 Extracellular (positions 45–76): 8 of 37 disease-causing changes, 2.6× more than its size predicts.
• GJA1 Transmembrane (positions 24–44): 5 of 37 disease-causing changes, 2.5× more than its size predicts.
• GJA1 Extracellular (positions 177–207): 5 of 37 disease-causing changes, 1.7× more than its size predicts.

Known disease-causing variants in Oculodentodigital dysplasia

Uncertain variants in Oculodentodigital dysplasia that look disease-causing

Diseases related to Oculodentodigital dysplasia

• Hypoplastic left heart syndrome, also linked to GJA1
• Familial atrioventricular septal defect, also linked to GJA1
• Syndactyly type 3, also linked to GJA1
• Autosomal dominant palmoplantar keratoderma and congenital alopecia, also linked to GJA1

Frequently asked questions

Which genes are linked to Oculodentodigital dysplasia?

In CATVariant, Oculodentodigital dysplasia is linked to 1 analyzed protein: GJA1 (Gap junction alpha-1 protein).

How many genetic variants are linked to Oculodentodigital dysplasia?

161 variants: 37 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 110 are of uncertain significance or have conflicting reports.

Which uncertain variants in Oculodentodigital dysplasia look disease-causing?

3 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example GJA1 Y66C, GJA1 N63K and GJA1 G138V. These are leads for expert review, not diagnoses.

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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