PMP22 Chromosome 17
Peripheral myelin protein 22
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What This Gene Does
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
17p12
Ensembl
ENSG00000109099
Associated Conditions (19)
Hereditary liability to pressure palsies
Charcot-Marie-Tooth disease
type 1a
autosomal recessive
type IA
type I
Tip-toe gait
Charcot-Marie-Tooth disease type 1E
6 conditions
PMP22-related disorder
Dejerine-Sottas disease
Inborn genetic diseases
DEJERINE-SOTTAS SYNDROME
AUTOSOMAL DOMINANT
Peripheral neuropathy
Roussy-Lévy syndrome
with focally folded myelin sheaths
Charcot-Marie-Tooth disease type 2E
Autosomal recessive Dejerine-Sottas syndrome
Key Variants
RS104894619
Conflicting classifications of pathogenicity
Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type 1a
Health Risk
RS104894623
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type I
Health Risk
RS147885521
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies
Health Risk
RS1555565276
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1E
Health Risk
RS1555565283
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
RS1597597627
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, type IA
Health Risk
RS1597607638
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
RS1597607920
Conflicting classifications of pathogenicity
Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I
Health Risk
RS201128796
Conflicting classifications of pathogenicity
Tip-toe gait, Tip-toe gait
Health Risk
RS368908933
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Tip-toe gait
Health Risk
RS373417110
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
RS373690370
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894619 | Health Risk | Conflicting classifications of pathogenicity | Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type 1a |
| RS104894623 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type I |
| RS147885521 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies |
| RS1555565276 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1E |
| RS1555565283 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1597597627 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, type IA |
| RS1597607638 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1597607920 | Health Risk | Conflicting classifications of pathogenicity | Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I |
| RS201128796 | Health Risk | Conflicting classifications of pathogenicity | Tip-toe gait, Tip-toe gait |
| RS368908933 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Tip-toe gait |
| RS373417110 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS373690370 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies |
| RS375105159 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies |
| RS376797385 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS377335295 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS377467465 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS570955542 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587776691 | Health Risk | Conflicting classifications of pathogenicity | Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, Hereditary liability to pressure palsies |
| RS750000952 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Tip-toe gait |
| RS755551524 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS756820859 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS768085434 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS786204064 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS786205111 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1E |
| RS878853113 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS104894620 | Health Risk | Likely pathogenic | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT, Charcot-Marie-Tooth disease |
| RS104894626 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type I |
| RS1555564032 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type IA, Charcot-Marie-Tooth disease |
| RS1555564040 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1555564050 | Health Risk | Likely pathogenic | — |
| RS1597597445 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1597597900 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS1597635528 | Health Risk | Likely pathogenic | Hereditary liability to pressure palsies, Hereditary liability to pressure palsies |
| RS1906263385 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1909079392 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1909238157 | Health Risk | Likely pathogenic | — |
| RS1909238801 | Health Risk | Likely pathogenic | — |
| RS2150710134 | Health Risk | Likely pathogenic | Peripheral neuropathy, Peripheral neuropathy |
| RS2150710219 | Health Risk | Likely pathogenic | Dejerine-Sottas disease, Dejerine-Sottas disease |
| RS2508077437 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease type 1E |
| RS2508226636 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2508227063 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS755701957 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS104894617 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type IA, type I |
| RS104894618 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type IA, type I |
| RS104894621 | Health Risk | Pathogenic | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT, Charcot-Marie-Tooth disease |
| RS104894622 | Health Risk | Pathogenic | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT, Charcot-Marie-Tooth disease |
| RS104894625 | Health Risk | Pathogenic | Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IA |
| RS104894627 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths |
| RS11545341 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |