Kindler syndrome: genes and variants
Kindler syndrome is linked to 1 analyzed protein (FERMT1). 1 DNA variants are known to cause it; 20 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 Kindler syndrome
FERMT1: Fermitin family homolog 1
It activates integrins and connects them to the actin cytoskeleton in basal keratinocytes, supporting adhesion of epidermis to basement membrane. Biallelic loss-of-function variants cause Kindler epidermolysis bullosa, with skin fragility, photosensitivity, and progressive poikiloderma.
1 disease-causing and 20 uncertain variants in FERMT1 are linked to Kindler syndrome.
Known disease-causing variants in Kindler syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FERMT1 S400P | 400 | PH | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Kindler syndrome?
In CATVariant, Kindler syndrome is linked to 1 analyzed protein: FERMT1 (Fermitin family homolog 1).
How many genetic variants are linked to Kindler syndrome?
50 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 20 are of uncertain significance or have conflicting reports.
Which uncertain variants in Kindler 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center