Case#: Family_22142_Proband_II-1, onset before age 7 years, male, seen at a medical center in Guangzhou
CasePresentingHPOs: High myopia HP:0011003, Blurred vision HP:0000622, Childhood onset HP:0011463, Protanopia HP:0011522
CaseHPOFreeText: The proband is part of a cohort in which all patients had a diagnosis of early onset high myopia, with onset in early childhood and either high myopia or axial length >25 mm before age 7, or refractive errors <-10 as an adult.
CaseNotHPOs: Nystagmus HP:0000639, Photophobia HP:0000613, Nyctalopia HP:0000662
CaseNotHPOFreeText: N/A
CasePreviousTesting: Genotyping of the proband was performed by either targeted exome sequencing or whole exome sequencing.
CaseMethod1: targeted exome or whole exome sequencing
CaseMethod2: Sanger sequencing of OPN1LW
CaseGenotypingMethod: Genotyping of the proband was performed by either targeted exome sequencing or whole exome sequencing, followed by Sanger sequencing of OPN1LW.
Variant: The individual harbors the NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) variant in the hemizygous state.
ClinVarID: 10503
gnomAD: The variant was not found in gnomAD version 4.1.0.
VariantEvidence: NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) is a nonsense variant in exon 3 of 6 that is predicted to undergo nonsense-mediated decay.
CaseAddInfo: The proband was seen at a medical center in Guangzhou. The variant was inherited from the proband's unaffected mother.
CasePMIDs: N/A