ClinGen Dosage Sensitivity Curation Page

POMP

  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)

Haploinsufficiency phenotype comments:

Variants in POMP have described in individuals with keratosis linearis with ichthyosis congenita and sclerosing keratoderma, an autosomal recessive condition.

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