17p12 recurrent (HNPP/CMT1A) region (includes PMP22)

  • 3
    Haplo
    Score
  • 3
    Triplo
    Score

Region Facts

Region Name
17p12 recurrent (HNPP/CMT1A) region (includes PMP22)
Cytoband
17p12
Genomic Coordinates
GRCh37/hg19 chr17:14097915-15422952 NCBI Ensembl UCSC
GRCh38/hg38 chr17:14194598-15519638 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-37436
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
This review refers to the 17p12 recurrent region (includes PMP22). Note that genes used as landmarks are not necessarily causative of the phenotype(s) associated with the region
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
Sufficient Evidence for Triplosensitivity (3)
Related Links:
Last Evaluated:
10/13/2016

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:
HI Evidence Comments:
Deletion of this region is associated with autosomal dominant hereditary neuropathy with liability to pressure palsies (HNPP). HNPP is characterized by repeated focal pressure neuropathies beginning in adolescence or young adulthood. The penetrance of recurrent 17p12 (PMP22) deletion is unknown, as many individuals that carry a deletion of this region have few (or no) symptoms and are thought to remain undiagnosed. Approximately 80% of HNPP deletions are inherited. Loss-of-function mutations in the gene PMP22 (nonsense, missense, splice site, and small deletions) are also causative for HNPP.

Triplosensitivity (TS) Score Details

TS Score:
3
TS Evidence Strength:
Sufficient Evidence for Triplosensitivity (Disclaimer)
TS Disease:
  • Charcot-Marie-Tooth disease type 1A Monarch
TS Published Evidence:
  • PUBMED: 20301384
    GeneReviews on CMT1, includes CMT1A caused by 17p12 (PMP22) region duplication
TS Evidence Comments:
Duplication of this region is associated with Charcot-Marie-Tooth type 1A (CMT1A). CMT1A is a neuropathy that is characterized by slowly progressive weakness and atrophy of distal muscles (hands and the legs below the knees), hearing loss, pes cavus foot deformity, hip dysplasia, and additional clinical findings. The penetrance of this duplication is thought to be near 100%; however, age of onset and severity of the condition are variable, and some carriers are not clinically recognized. Approximately 67-80% of recurrent 17p12 (PMP22) region duplications are inherited.

Genomic View

Select assembly: (NC_000017.10) ()