Ataxia-telangiectasia-like disorder: genes and variants
Ataxia-telangiectasia-like disorder is linked to 1 analyzed protein (MRE11). 2 DNA variants are known to cause it; 497 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Ataxia-telangiectasia-like disorder 1
Genes linked to Ataxia-telangiectasia-like disorder
MRE11: Double-strand break repair protein MRE11
It detects and processes DNA double-strand breaks within the MRE11-RAD50-NBN complex and helps activate ATM-dependent checkpoints. Biallelic hypomorphic variants can cause ataxia-telangiectasia-like disorder with chromosome instability and progressive neurologic disease.
2 disease-causing and 497 uncertain variants in MRE11 are linked to Ataxia-telangiectasia-like disorder.
Known disease-causing variants in Ataxia-telangiectasia-like disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MRE11 W210C | 210 | Disease-causing (★★) | |
| MRE11 T481K | 481 | Disease-causing (★) |
Diseases related to Ataxia-telangiectasia-like disorder
- Ovarian cancer, also linked to MRE11
- Hereditary breast ovarian cancer syndrome, also linked to MRE11
Frequently asked questions
Which genes are linked to Ataxia-telangiectasia-like disorder?
In CATVariant, Ataxia-telangiectasia-like disorder is linked to 1 analyzed protein: MRE11 (Double-strand break repair protein MRE11).
How many genetic variants are linked to Ataxia-telangiectasia-like disorder?
539 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 497 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ataxia-telangiectasia-like disorder 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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