Erythrokeratodermia variabilis et progressiva 6: genes and variants
Explore variant evidence for Erythrokeratodermia variabilis et progressiva 6 across 2 analyzed proteins (GJA1, TRPM4). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 47 variants of uncertain significance and 8 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Erythrokeratodermia variabilis et progressiva 6
GJA1: Gap junction alpha-1 protein
It forms connexin 43 gap junctions that permit direct electrical and metabolic communication between neighboring cells in heart, bone, skin, and many other tissues. Pathogenic variants cause oculodentodigital dysplasia and related syndromes with craniofacial, dental, limb, and sometimes cardiac abnormalities.
1 ClinVar pathogenic / likely pathogenic and 1 uncertain variants in GJA1 have source records linked to Erythrokeratodermia variabilis et progressiva 6. Association strength is not clinical gene validity.
TRPM4: Transient receptor potential cation channel subfamily M member 4
A calcium-activated channel that conducts monovalent cations and regulates membrane depolarization. Certain variants have been linked to progressive familial cardiac conduction disease.
1 ClinVar pathogenic / likely pathogenic and 54 uncertain variants in TRPM4 have source records linked to Erythrokeratodermia variabilis et progressiva 6. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Erythrokeratodermia variabilis et progressiva 6
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GJA1 A44V | 44 | Transmembrane | Pathogenic / likely pathogenic (★★) |
| TRPM4 I1033M | 1033 | Transmembrane | Pathogenic / likely pathogenic |
Same protein, different disease
- Oculodentodigital dysplasia also has ClinVar records linked to GJA1 variants; they fall mostly in different places as the Erythrokeratodermia variabilis et progressiva 6 variants (37 pathogenic / likely pathogenic).
- Progressive familial heart block also has ClinVar records linked to TRPM4 variants; they fall mostly in different places as the Erythrokeratodermia variabilis et progressiva 6 variants (3 pathogenic / likely pathogenic).
Diseases related to Erythrokeratodermia variabilis et progressiva 6
- Long QT syndrome, also linked to TRPM4
- Oculodentodigital dysplasia, also linked to GJA1
- Progressive familial heart block, also linked to TRPM4
- Syndactyly, also linked to GJA1
- Hypoplastic left heart syndrome, also linked to GJA1
Frequently asked questions
Which genes have records linked to Erythrokeratodermia variabilis et progressiva 6?
This view contains 2 analyzed proteins: GJA1, TRPM4. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 2 pathogenic or likely pathogenic variants, 47 variants of uncertain significance and 8 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 57 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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