Disorder "Leber Congenital Amaurosis"
Found 2 records
Disorder information
Disorder name:
Leber Congenital Amaurosis
Disoder ID:
OMIM entry:
Synonyms:
LCA,Leber's amaurosis,Leber's congenital amaurosis,Leber's disease
Definition:
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| AHI1 | AHI1:c.2433T>G(p.Asn811Lys) | Expressivity | Altered severity | Assessment of genotype–phenotype associations | These two AHI1 mutations might thus represent neurological modifiers of CEP290-related diseasemore | more |
| AHI1:p.His758Pro | Expressivity | Altered severity | Assessment of genotype–phenotype associations | These two AHI1 mutations might thus represent neurological modifiers of CEP290-related diseasemore | more |
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