Case#: Schroeder_2022_Proband, female, age 32 at time of diagnosis, family national origin reported as Swedish
CasePresentingHPOs: Optic disc pallor HP:0000543, Retinal detachment HP:0000541, Presenile cataracts HP:0007819, Decreased light- and dark-adapted electroretinogram amplitude HP:0000654, Retinal hole HP:0011530, Abnormal fundus autofluorescence imaging HP:0030602
CaseHPOFreeText: The patient optic discs were described as slightly gliotic. OCT showed lacunar retinal substance losses in the fovea and attenuation in all segments of the macula. FAF showed a paracentral ring of fine granular increase of autofluorescence around the fovea in the posterior pole.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: Genotyping of the proband was performed by whole genome sequencing.
CaseMethod1: whole genome sequencing
CaseMethod2: Sanger sequencing of KCNJ13
CaseGenotypingMethod: Genotyping of the proband was performed by whole genome sequencing, followed by Sanger sequencing of KCNJ13.
Variant: The individual harbors the NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) variant in the heterozygous state.
ClinVar: 6585
gnomAD: The variant is found in gnomAD version 4.1.0 at a frequency of 0.0000008536 (1 / 1,171,470) in the European (non-Finnish) population
https://gnomad.broadinstitute.org/variant/chr2-232768790-G-A?dataset=gnomad_r4
VariantEvidence:NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) is a missense variant that has functional evidence of electrophysiological abnormalities and loss of sensitivity to different K+ concentrations, when exogenously expressed in CHO cells (PMID: 18179896, Figure 2).
CaseAddInfo: The proband has three affected family members who also harbored the variant in the heterozygous state. Consanguinity was not reported.
CasePMIDs: N/A