SMPX Chromosome X
Small muscle protein X-linked
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What This Gene Does
This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]
Associated Conditions (10)
Hearing loss
X-linked 4
SMPX-related disorder
Hearing impairment
X-linked deafness
Myopathy
distal
7
adult-onset
X-linked
Key Variants
RS1057515839
Conflicting classifications of pathogenicity
Hearing loss, X-linked 4, Hearing loss
Health Risk
RS199907508
Conflicting classifications of pathogenicity
Hearing loss, X-linked 4, SMPX-related disorder
Health Risk
RS1060499590
Likely pathogenic
Hearing loss, X-linked 4, Hearing loss
Health Risk
RS2092830420
Likely pathogenic
Hearing loss, X-linked 4, Hearing loss
Health Risk
RS2147387122
Likely pathogenic
Hearing impairment, Hearing impairment
Health Risk
RS2147390444
Likely pathogenic
Hearing loss, X-linked 4, Hearing loss
Health Risk
RS2519503836
Likely pathogenic
Hearing loss, X-linked 4, Hearing loss
Health Risk
RS1569308571
Pathogenic
X-linked deafness, X-linked deafness
Health Risk
RS2147387003
Pathogenic
Myopathy, distal, 7
Health Risk
RS2147390451
Pathogenic
Health Risk
RS2147390527
Pathogenic
Myopathy, distal, 7
Health Risk
RS2147396459
Pathogenic
Myopathy, distal, 7
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057515839 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, X-linked 4, Hearing loss |
| RS199907508 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, X-linked 4, SMPX-related disorder |
| RS1060499590 | Health Risk | Likely pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS2092830420 | Health Risk | Likely pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS2147387122 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS2147390444 | Health Risk | Likely pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS2519503836 | Health Risk | Likely pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS1569308571 | Health Risk | Pathogenic | X-linked deafness, X-linked deafness |
| RS2147387003 | Health Risk | Pathogenic | Myopathy, distal, 7 |
| RS2147390451 | Health Risk | Pathogenic | — |
| RS2147390527 | Health Risk | Pathogenic | Myopathy, distal, 7 |
| RS2147396459 | Health Risk | Pathogenic | Myopathy, distal, 7 |
| RS387906706 | Health Risk | Pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS387906707 | Health Risk | Pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS387906708 | Health Risk | Pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS398122848 | Health Risk | Pathogenic | Hearing loss, X-linked 4, Hearing loss |
| RS745997977 | Health Risk | Pathogenic | — |
| RS770287561 | Health Risk | Pathogenic | Myopathy, distal, 7 |
| RS398122930 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, X-linked 4, Hearing loss |