A 37-year-old East Asian woman
Case#: Patient 37 yo, F, Eastern Asian, onset at 8yo (early onset), Heterozygous, AR inheritance patterns
DiseaseAssertion:Retinitis Pigmentosa (RP)
FamilyInfo: Two brothers with RP and father with poor vision at 30 yo but no formal diagnosis
CasePresentingHPOs: HP:0003581, HP:0007737, HP:0000510, HP:000133
CaseHPOFreeText: N/A
CaseNotHPOs: HP: 0000007, HP:0007663, HP:0000505, HP:0000662
CaseNotHPOFreeText: N/A
Genotyping Method: N/A
PreviouslyPublished: Panel of genes; RP1L1, RP-GRIP1, ABCA4, and GRM6
Variant: c.5501T>C p.(Met1019Ille)
ClinVar: 1481089
SupplementalData: see tables 1 and 2 for genetic variant panel