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 |
|---|---|---|---|
| RS1426969421 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1482355069 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1555568475 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies |
| RS1567698872 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1567704621 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1567704791 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies |
| RS1567719258 | Health Risk | Pathogenic | — |
| RS1597597534 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1597597678 | Health Risk | Pathogenic | Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type I |
| RS1597607514 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1597607532 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1597607651 | Health Risk | Pathogenic | Dejerine-Sottas disease, Dejerine-Sottas disease |
| RS1597608057 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1597608086 | Health Risk | Pathogenic | Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I |
| RS1597608203 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, PMP22-related disorder |
| RS1597608225 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1597633171 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1597635540 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1906290133 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1906294453 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1909244614 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS1909248652 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, type IA |
| RS2150676904 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2508024645 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2508077811 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2508078064 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2508210150 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2508211771 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS2508226622 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS775019409 | Health Risk | Pathogenic | Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I |
| RS786205087 | Health Risk | Pathogenic | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT, DEJERINE-SOTTAS SYNDROME |
| RS797044846 | Health Risk | Pathogenic | — |
| RS80338763 | Health Risk | Pathogenic | Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease |
| RS863225027 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type IA, type I |
| RS863225028 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS864622678 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS879253954 | Health Risk | Pathogenic | Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I |
| RS104894624 | Health Risk | Pathogenic/Likely pathogenic | DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT, Charcot-Marie-Tooth disease |
| RS1597597527 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS28936682 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease |
| RS863225029 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, type IA, type I |
| RS864622180 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS906563423 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |