PLP1 Chromosome X
Proteolipid protein 1
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What This Gene Does
This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
Associated Conditions (14)
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease
Inborn genetic diseases
Hereditary spastic paraplegia
See cases
Intellectual disability
PLP1-related disorder
atypical
connatal
mild
Thyroid cancer
nonmedullary
1
Auditory neuropathy spectrum disorder
Key Variants
RS132630295
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Inborn genetic diseases
Health Risk
RS1364496996
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Inborn genetic diseases, Hereditary spastic paraplegia 2
Health Risk
RS1451785682
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
Health Risk
RS2074497991
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
RS2147764616
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia
Health Risk
RS2147765890
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
Health Risk
RS2147766068
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, See cases, Hereditary spastic paraplegia 2
Health Risk
RS2147766937
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
RS2522301501
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pelizaeus-Merzbacher disease, Inborn genetic diseases
Health Risk
RS2522307983
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
RS2522318249
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
Health Risk
RS2522328650
Conflicting classifications of pathogenicity
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
All Variants (151)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS132630295 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Inborn genetic diseases |
| RS1364496996 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Inborn genetic diseases, Hereditary spastic paraplegia 2 |
| RS1451785682 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2074497991 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS2147764616 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia |
| RS2147765890 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2147766068 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, See cases, Hereditary spastic paraplegia 2 |
| RS2147766937 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS2522301501 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pelizaeus-Merzbacher disease, Inborn genetic diseases |
| RS2522307983 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS2522318249 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522328650 | Health Risk | Conflicting classifications of pathogenicity | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS886043504 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS902326390 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS1005010589 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1013902509 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1060500909 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS1064794255 | Health Risk | Likely pathogenic | — |
| RS1064796350 | Health Risk | Likely pathogenic | — |
| RS112667596 | Health Risk | Likely pathogenic | — |
| RS113345335 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS1135401759 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS113951193 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1183400865 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630279 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630281 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630289 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630291 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS132630294 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS1556269487 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1556270312 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Intellectual disability, Pelizaeus-Merzbacher disease |
| RS1556273075 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease |
| RS1569427275 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1569427707 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1569428537 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1602383268 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1602384238 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1602385663 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1602385699 | Health Risk | Likely pathogenic | — |
| RS2074498206 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2074506871 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS2147764222 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2147766958 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS2147768028 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS2522300691 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522301037 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301062 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301179 | Health Risk | Likely pathogenic | PLP1-related disorder, Pelizaeus-Merzbacher disease, PLP1-related disorder |
| RS2522301288 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301325 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |