IMAGe syndrome: genes and variants
IMAGe syndrome is linked to 1 analyzed protein (CDKN1C). 3 DNA variants are known to cause it; 13 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 IMAGe syndrome
CDKN1C: Cyclin-dependent kinase inhibitor 1C
It restrains embryonic and placental cell proliferation and is subject to parent-of-origin-specific genomic imprinting. Loss of maternal expression contributes to Beckwith-Wiedemann syndrome, whereas gain-of-function variants can cause growth-restriction syndromes such as IMAGe syndrome.
3 disease-causing and 13 uncertain variants in CDKN1C are linked to IMAGe syndrome.
Known disease-causing variants in IMAGe syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDKN1C K278E | 278 | Nuclear localization signal | Disease-causing (★) |
| CDKN1C F276V | 276 | Disease-causing | |
| CDKN1C R279P | 279 | Nuclear localization signal | Disease-causing |
Same protein, different disease
- Beckwith-Wiedemann syndrome is also caused by CDKN1C variants; they fall mostly in different places as the IMAGe syndrome variants (4 disease-causing).
Diseases related to IMAGe syndrome
- Alzheimer disease, also linked to CDKN1C
- Beckwith-Wiedemann syndrome, also linked to CDKN1C
- Parkinson disease, also linked to CDKN1C
Frequently asked questions
Which genes are linked to IMAGe syndrome?
In CATVariant, IMAGe syndrome is linked to 1 analyzed protein: CDKN1C (Cyclin-dependent kinase inhibitor 1C).
How many genetic variants are linked to IMAGe syndrome?
20 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in IMAGe 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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