SMCHD1
HGNC:29090 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
0Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in SMCHD1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| Duchenne muscular dystrophy | — | 1 | 1 |
| congenital myopathy | — | 1 | 1 |
| Pompe disease | — | 1 | 1 |
Linked variants
Variants normalized to SMCHD1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|
No structured population context is available.
Supporting publications
5 records- 2026Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances.Molecular biology reportsPubMed ↗
- 2026Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.Genome researchPubMed ↗
- 2026Cranial placode differentiation defect in individuals born without a nose.Stem cell reportsPubMed ↗
- 2023In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.Nucleic acids researchPubMed ↗
- 2017The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.Journal of human geneticsPubMed ↗