Atrioventricular septal defect 4: genes and variants
Atrioventricular septal defect 4 is linked to 2 analyzed proteins (GATA4 and GATA6). 7 DNA variants are known to cause it; 599 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: atrioventricular septal defect 5
Genes linked to Atrioventricular septal defect 4
GATA4: Transcription factor GATA-4
It controls cardiac development and adult cardiac gene expression and also contributes to gonadal and gastrointestinal development. Heterozygous pathogenic variants can cause congenital heart defects, particularly septal defects, and occasionally cardiomyopathy or disorders of sex development.
7 disease-causing and 332 uncertain variants in GATA4 are linked to Atrioventricular septal defect 4.
GATA6: Transcription factor GATA-6
It regulates developmental programs in the pancreas, heart, gut, and other endoderm-derived tissues. Haploinsufficiency is a major cause of pancreatic agenesis and neonatal diabetes and can also produce congenital heart disease and other developmental abnormalities.
0 disease-causing and 267 uncertain variants in GATA6 are linked to Atrioventricular septal defect 4.
Where Atrioventricular septal defect 4 variants cluster
- GATA4 GATA-type 2 (positions 271–295): 4 of 7 disease-causing changes, 10.1× more than its size predicts.
Known disease-causing variants in Atrioventricular septal defect 4
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA4 R284H | 284 | GATA-type 2 | Disease-causing (★★) |
| GATA4 R283H | 283 | GATA-type 2 | Disease-causing (★★) |
| GATA4 G296S | 296 | Disease-causing (★★) | |
| GATA4 C295S | 295 | GATA-type 2 | Disease-causing (★) |
| GATA4 G64E | 64 | Disease-causing (★) | |
| GATA4 C292W | 292 | GATA-type 2 | Disease-causing (★) |
| GATA4 P307R | 307 | Disease-causing (★) |
Uncertain variants in Atrioventricular septal defect 4 that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| GATA4 R284C | 284 | GATA-type 2 | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; R284H at the same position is pathogenic; REVEL 0.940 |
Same protein, different disease
- Atrial septal defect is also caused by GATA4 variants; they fall partly in the same places as the Atrioventricular septal defect 4 variants (5 disease-causing).
Diseases related to Atrioventricular septal defect 4
- Atrial septal defect, also linked to GATA4 and GATA6
- Monogenic diabetes, also linked to GATA6
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, also linked to GATA6
- Testicular anomalies with or without congenital heart disease, also linked to GATA4
- Ventricular septal defect, also linked to GATA4
Frequently asked questions
Which genes are linked to Atrioventricular septal defect 4?
In CATVariant, Atrioventricular septal defect 4 is linked to 2 analyzed proteins: GATA4 (Transcription factor GATA-4) and GATA6 (Transcription factor GATA-6).
How many genetic variants are linked to Atrioventricular septal defect 4?
638 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 599 are of uncertain significance or have conflicting reports.
Which uncertain variants in Atrioventricular septal defect 4 look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example GATA4 R284C. 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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