17p12 deletion syndrome

Episodic, recurrent demyelinating neuropathy triggered by minor compression or trauma. PMP22 haploinsufficiency. Tomaculous (sausage-shaped) myelin on biopsy. ~1:50,000.

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

pHI ≥ 0.86 ≥ 0.5 ≥ 0.2 < 0.2 / n/a key gene

Gene content — colored by haploinsufficiency (pHI)

chr17:14,100,000-15,500,0001.40 Mb7 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

7 genes · sorted by haploinsufficiency (pHI)

Gene	Disease ?	pHI ?	pTS ?	LOEUF ?	Pred. ?	Resources
PMP22key fully contained	—	—	—	—	—	Gene OMIM
CDRT15 fully contained	—	—	—	—	—	Gene OMIM
TEKT3 fully contained	—	—	—	—	—	Gene OMIM
HS3ST3B1 fully contained	—	—	—	—	—	Gene OMIM
CDRT4 fully contained	—	—	—	—	—	Gene OMIM
COX10 + strand	—	—	—	—	—	Gene OMIM
TVP23C-CDRT4 - strand	—	—	—	—	—	Gene OMIM

Input: “HNPP” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38