Testicular anomalies with or without congenital heart disease: genes and variants
Testicular anomalies with or without congenital heart disease is linked to 1 analyzed protein (GATA4). 3 DNA variants are known to cause it; 6 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 Testicular anomalies with or without congenital heart disease
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.
3 disease-causing and 6 uncertain variants in GATA4 are linked to Testicular anomalies with or without congenital heart disease.
Known disease-causing variants in Testicular anomalies with or without congenital heart disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA4 R284H | 284 | GATA-type 2 | Disease-causing (★★) |
| GATA4 R283H | 283 | GATA-type 2 | Disease-causing (★★) |
| GATA4 G221R | 221 | GATA-type 1 | Disease-causing |
Same protein, different disease
- Atrioventricular septal defect 4 is also caused by GATA4 variants; they fall mostly in different places as the Testicular anomalies with or without congenital heart disease variants (7 disease-causing).
- Atrial septal defect is also caused by GATA4 variants; they fall mostly in different places as the Testicular anomalies with or without congenital heart disease variants (5 disease-causing).
Diseases related to Testicular anomalies with or without congenital heart disease
- Atrial septal defect, also linked to GATA4
- Atrioventricular septal defect 4, also linked to GATA4
- Ventricular septal defect, also linked to GATA4
Frequently asked questions
Which genes are linked to Testicular anomalies with or without congenital heart disease?
In CATVariant, Testicular anomalies with or without congenital heart disease is linked to 1 analyzed protein: GATA4 (Transcription factor GATA-4).
How many genetic variants are linked to Testicular anomalies with or without congenital heart disease?
15 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Testicular anomalies with or without congenital heart disease 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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