ClinGen Dosage Sensitivity Curation Page

MYO5B

  • Curation Status: Complete

Location Information

Select assembly: (NC_000018.9) (NC_000018.10)

Haploinsufficiency phenotype comments:

Variants in MYO5B have been reported in association with microvillus inclusion disease, an autosomal recessive condition.

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