ClinGen Dosage Sensitivity Curation Page

HPSE2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: UROFACIAL SYNDROME 1; UFS1

Haploinsufficiency phenotype comments:

Variants in HPSE2 have been reported in individuals with Urofacial syndrome, an autosomal recessive disorder. Of note, homozygous intragenic deletions of HPSE2 have been identified in individuals with Urofacial syndrome (PMID:20560210).

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