Hidrotic ectodermal dysplasia syndrome: genes and variants
Hidrotic ectodermal dysplasia syndrome is linked to 1 analyzed protein (GJB6). 3 DNA variants are known to cause it; 24 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 Hidrotic ectodermal dysplasia syndrome
GJB6: Gap junction beta-6 protein
It forms connexin 30 gap junctions in the cochlea, skin, and other epithelia and contributes to intercellular ion and metabolite exchange. Deletions or pathogenic variants can cause nonsyndromic hearing loss or ectodermal dysplasia syndromes.
3 disease-causing and 24 uncertain variants in GJB6 are linked to Hidrotic ectodermal dysplasia syndrome.
Known disease-causing variants in Hidrotic ectodermal dysplasia syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GJB6 G11R | 11 | Cytoplasmic | Disease-causing (★★) |
| GJB6 D50H | 50 | Extracellular | Disease-causing (★★) |
| GJB6 V37E | 37 | Transmembrane | Disease-causing |
Diseases related to Hidrotic ectodermal dysplasia syndrome
- Autosomal recessive nonsyndromic hearing loss 4, also linked to GJB6
- Autosomal dominant nonsyndromic hearing loss, also linked to GJB6
- Hearing loss, also linked to GJB6
- X-linked mixed hearing loss with perilymphatic gusher, also linked to GJB6
Frequently asked questions
Which genes are linked to Hidrotic ectodermal dysplasia syndrome?
In CATVariant, Hidrotic ectodermal dysplasia syndrome is linked to 1 analyzed protein: GJB6 (Gap junction beta-6 protein).
How many genetic variants are linked to Hidrotic ectodermal dysplasia syndrome?
32 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 24 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hidrotic ectodermal dysplasia 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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