ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
8012388 Nicholson et al. (1994) found a 2 bp deletion in PMP22 (207TC) that resulted in a frameshift was found in all affected family members with HNPP.
9040737 Young et al. (1997) found a 1 bp insertion in PMP22 (325G) that resulted in a frameshift and inclusion of an additional 127 amino acids in family members affected with HNPP but not in normal family members.
9712007 Lenssen et al. (1998) report on six HNPP families with an insertion resulting in a frameshift (Gly94fs). They compared the phenotypes of these families compared to families with the common 1.5 Mb deletion and found that the frameshift mutation resulted in HNPP with additional neuropathy features similar to CMT1.

Haploinsufficiency phenotype comments:

HNPP Point mutations in PMP22 are also associated with CMT1E (118300).

Triplosensitivity phenotype comment:

Duplications of a region including PMP22 cause CMT1A. See linked region below for more detail. To date there are no published duplications of only PMP22, which is why this gene received a triplosensitivity score of 0.