SMARCAD1
Chr 4ADSNF2 related chromatin remodeling ATPase with DExD box 1
Also known as: ADERM, BASNS, ETL1, HEL1, HPGDS-AS1, HRZ, TYS
The SMARCAD1 protein is an ATP-dependent chromatin remodeling enzyme that facilitates DNA repair and maintains heterochromatin organization by mediating histone modifications and nucleosome assembly. Mutations cause autosomal dominant ectodermal disorders including adermatoglyphia (absence of fingerprints), Basan syndrome, and Huriez syndrome. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
180 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 4 | 0 | 19 | 0 | 23 |
Likely Pathogenic | 1 | 0 | 3 | 0 | 4 |
VUS | 0 | 84 | 5 | 0 | 89 |
Likely Benign | 0 | 4 | 1 | 6 | 11 |
Benign | 0 | 4 | 12 | 5 | 21 |
Conflicting | — | 1 | |||
| Total | 5 | 92 | 40 | 11 | 149 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SMARCAD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools