ClinGen Dosage Sensitivity Curation Page

SEM1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)

Haploinsufficiency phenotype comments:

Non-focal heterozygous deletions and chromosomal rearrangements involving 7q21 have been reported in patients with Split-hand/foot malformation 1 (SHFM1). As all reported deletions involving the gene SHFM1 (formerly DSS1) include additional genes, the potential haploinsufficiency for SHFM1 alone is not known. The minimal deleted region in SHFM1 also includes the genes DLX 5 and DLX6, whose concomitant haploinsufficiency is currently favored as the pathogenic mechanism for SHFM1 [see PMIDs 22342398 and 19401716 and OMIM for reviews of the literature].

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