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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 30-11-2017 |
Symbol | NYS1A |
Location | Xq26.2 |
Name | nystagmus 1A, congenital |
Other name(s) |
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Corresponding gene | FRMD7 |
Other symbol(s) | CMN, NYS1, IIN |
Main clinical features |
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Genetic determination | sex linked |
Prevalence | 24 per 10 000 |
Function/system disorder | eye |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
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| truncated protein
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Remark(s) |
. CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and defects in this interaction result in nystagmus (PMID: 23406872))
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