Case
SR1846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1846
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Pedigree
| Age at visit: 13 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | REEP6 | Gly131Arg GGG>AGG | Deletion of entire gene | AR |
Disease:
Gene:
Allele 1:
Gly131Arg GGG>AGG
Allele 2:
Deletion of entire gene
Inheritance:
AR