ClinGen Dosage Sensitivity Curation Page

TMEM43

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

TMEM43 only heterozygous point mutations within the gene have been described in families with arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID:21214875, 23812740, 24598986,18313022). Gene function is unknown. PMID 21391237 described two patients with TMEM43 heterozygous missense mutations in Emery Dreifuss Muscular Dystrophy Related Myophathy. No familial follow-up was available. Functional studies suggest that mutant TMEM43 may be involved in the nuclear localization of emrin and SUN2.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity