Familial atrioventricular septal defect: genes and variants

Genes linked to Familial atrioventricular septal defect

• TBX5: T-box transcription factor TBX5

  It directs upper-limb and cardiac developmental programs and later helps maintain cardiac conduction gene expression. Haploinsufficiency causes Holt-Oram syndrome, characterized by radial-ray limb abnormalities and congenital heart or conduction defects.

  1 disease-causing and 0 uncertain variants in TBX5 are linked to Familial atrioventricular septal defect.

• 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.

  0 disease-causing and 0 uncertain variants in GJA1 are linked to Familial atrioventricular septal defect.

Weakly linked (only a few uncertain records): CHD7.

Known disease-causing variants in Familial atrioventricular septal defect

Same protein, different disease

• Holt-Oram syndrome is also caused by TBX5 variants; they fall mostly in different places as the Familial atrioventricular septal defect variants (13 disease-causing).
• Aortic valve disease 2 is also caused by TBX5 variants; they fall mostly in different places as the Familial atrioventricular septal defect variants (9 disease-causing).

Diseases related to Familial atrioventricular septal defect

• Oculodentodigital dysplasia, also linked to GJA1
• Holt-Oram syndrome, also linked to TBX5
• Aortic valve disease 2, also linked to TBX5
• Hypoplastic left heart syndrome, 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 Familial atrioventricular septal defect?

In CATVariant, Familial atrioventricular septal defect is linked to 2 analyzed proteins: TBX5 (T-box transcription factor TBX5) and GJA1 (Gap junction alpha-1 protein).

How many genetic variants are linked to Familial atrioventricular septal defect?

7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.

Which uncertain variants in Familial atrioventricular septal defect 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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