Disorder "Usher syndrome type 1"
Found 4 records
Disorder information
Disorder name:
Usher syndrome type 1
Disoder ID:
OMIM entry:
OMIM:602083
,OMIM:614990
,OMIM:606943
,OMIM:601067
,OMIM:612632
,OMIM:614869
,OMIM:276904
,OMIM:602097
,OMIM:276900
Synonyms:
USH1, US1, Usher syndrome type 1
Definition:
An usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.
Modifier statisitcs
Record:
4
Gene:
4
Variant:
4
Reference:
2
Effect type:
Expressivity(4)
Modifier effect:
Altered onset time(3)
,Altered severity and onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| USH1G | USH1G:c.28C-T(p.R10W) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | The mutation is possibly disease modifiersmore | more |
| USH1C | USH1C:c.2437T-G(p.Y813D) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | The mutation is possibly disease modifiersmore | more |
| PDZD7 | PDZD7:rs747536638 | Expressivity | Altered severity and onset time | Pedigree analysis | PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.more | more |
| CDH23 | CDH23:rs188498736 | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | The mutation is possibly disease modifiersmore | more |
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