Mungan syndrome: genes and variants
Mungan syndrome is linked to 1 analyzed protein (RAD21). 1 DNA variants are known to cause it; 4 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 Mungan syndrome
RAD21: Double-strand-break repair protein rad21 homolog
It forms part of the cohesin ring that holds replicated chromosomes together and also helps organize three-dimensional chromatin and gene regulation. Haploinsufficiency causes a Cornelia-de-Lange-like developmental syndrome, while somatic mutations occur in myeloid cancers.
1 disease-causing and 4 uncertain variants in RAD21 are linked to Mungan syndrome.
Known disease-causing variants in Mungan syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RAD21 A622T | 622 | Disease-causing (★) |
Same protein, different disease
- Cornelia de Lange syndrome is also caused by RAD21 variants; they fall mostly in different places as the Mungan syndrome variants (4 disease-causing).
Diseases related to Mungan syndrome
- Cornelia de Lange syndrome, also linked to RAD21
Frequently asked questions
Which genes are linked to Mungan syndrome?
In CATVariant, Mungan syndrome is linked to 1 analyzed protein: RAD21 (Double-strand-break repair protein rad21 homolog).
How many genetic variants are linked to Mungan syndrome?
5 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mungan syndrome 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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