PMP22
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PMP22 (HGNC:9118) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
peripheral myelin protein 22
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CMT1A
Alias symbols
HNPP, GAS3, Sp110, HMSNIA
%HI
40.48(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.37(Read more about gnomAD LOEUF score)
Cytoband
17p12
Genomic Coordinates
GRCh37/hg19: chr17:15133096-15168643 NCBI Ensembl UCSC
GRCh38/hg38: chr17:15229779-15265326 NCBI Ensembl UCSC
MANE Select Transcript
NM_000304.4 ENST00000312280.9 (Read more about MANE Select)
Function
Might be involved in growth regulation, and in myelinization in the peripheral nervous system. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27257
ClinGen Curation ID:
CCID:007687
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
07/12/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • hereditary neuropathy with liability to pressure palsies Monarch
HI Evidence:
  • PUBMED: 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.
  • PUBMED: 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.
  • PUBMED: 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.
HI Evidence Comments:
HNPP Point mutations in PMP22 are also associated with CMT1E (118300).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Disease:
  • Charcot-Marie-Tooth disease type 1A Monarch
TS Evidence Comments:
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.

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)