ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: MAL DE MELEDA; MDM

Haploinsufficiency phenotype comments:

Homozygous mutations, apparently loss-of-function (including a small deletion and several missense/nonsense), are reported in the literature resulting in the Mal de Meleda (MDM) phenotype, a rare autosomal recessive skin disorder. PMIDs: 11285253, 21690549, 19120323

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

Triplosensitivity phenotype comment:

No literature found.