Autosomal dominant cerebellar ataxia, deafness and narcolepsy: genes and variants
Autosomal dominant cerebellar ataxia, deafness and narcolepsy is linked to 1 analyzed protein (DNMT1). 5 DNA variants are known to cause it; 27 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 Autosomal dominant cerebellar ataxia, deafness and narcolepsy
DNMT1: DNA (cytosine-5)-methyltransferase 1
It copies existing DNA methylation patterns during replication and also contributes to chromatin regulation and neuronal maintenance. Dominant pathogenic variants can cause hereditary sensory neuropathy with dementia and hearing loss or a cerebellar ataxia-deafness-narcolepsy syndrome.
5 disease-causing and 27 uncertain variants in DNMT1 are linked to Autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Where Autosomal dominant cerebellar ataxia, deafness and narcolepsy variants cluster
- DNMT1 Interaction with the PRC2/EED-EZH2 complex (positions 308–606): 4 of 5 disease-causing changes, 4.3× more than its size predicts.
Known disease-causing variants in Autosomal dominant cerebellar ataxia, deafness and narcolepsy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DNMT1 Y495C | 495 | RFTS | Disease-causing (★★) |
| DNMT1 A554V | 554 | Interaction with the PRC2/EED-EZH2 complex | Disease-causing (★★) |
| DNMT1 G589A | 589 | Interaction with the PRC2/EED-EZH2 complex | Disease-causing (★) |
| DNMT1 L592R | 592 | Interaction with the PRC2/EED-EZH2 complex | Disease-causing (★) |
| DNMT1 E1531D | 1531 | SAM-dependent MTase C5-type | Disease-causing (★) |
Diseases related to Autosomal dominant cerebellar ataxia, deafness and narcolepsy
- Acute myeloid leukemia, also linked to DNMT1
- Spastic ataxia, also linked to DNMT1
- Myelodysplastic syndrome, also linked to DNMT1
- Hereditary sensory neuropathy-deafness-dementia syndrome, also linked to DNMT1
- Pituitary stalk interruption syndrome, also linked to DNMT1
Frequently asked questions
Which genes are linked to Autosomal dominant cerebellar ataxia, deafness and narcolepsy?
In CATVariant, Autosomal dominant cerebellar ataxia, deafness and narcolepsy is linked to 1 analyzed protein: DNMT1 (DNA (cytosine-5)-methyltransferase 1).
How many genetic variants are linked to Autosomal dominant cerebellar ataxia, deafness and narcolepsy?
34 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 27 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal dominant cerebellar ataxia, deafness and narcolepsy 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center