Danon disease: genes and variants
Danon disease is linked to 1 analyzed protein (LAMP2). 6 DNA variants are known to cause it; 175 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 Danon disease
LAMP2: Lysosome-associated membrane glycoprotein 2
It supports lysosomal membrane integrity, autophagic cargo delivery, and lysosome-mediated turnover, with particularly important roles in heart and skeletal muscle. Loss-of-function variants cause X-linked Danon disease, typically with hypertrophic cardiomyopathy, skeletal myopathy, and variable intellectual disability.
6 disease-causing and 175 uncertain variants in LAMP2 are linked to Danon disease.
Known disease-causing variants in Danon disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LAMP2 M1L | 1 | Disease-causing (★★) | |
| LAMP2 V310I | 310 | Second lumenal domain | Disease-causing (★★) |
| LAMP2 M1T | 1 | Disease-causing (★) | |
| LAMP2 V310F | 310 | Second lumenal domain | Disease-causing (★) |
| LAMP2 V310L | 310 | Second lumenal domain | Disease-causing (★) |
| LAMP2 M1I | 1 | Disease-causing |
Diseases related to Danon disease
- Hypertrophic cardiomyopathy, also linked to LAMP2
- Dilated cardiomyopathy, also linked to LAMP2
Frequently asked questions
Which genes are linked to Danon disease?
In CATVariant, Danon disease is linked to 1 analyzed protein: LAMP2 (Lysosome-associated membrane glycoprotein 2).
How many genetic variants are linked to Danon disease?
223 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 175 are of uncertain significance or have conflicting reports.
Which uncertain variants in Danon 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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