Case: Family I Proband III-6, female, 20yo at report

CasePresentingHPOs: HP:0000953, HP:0000998, HP:0030053, HP:0001822, HP:0000365, HP:0001698, HP:0012385, HP:0034373, HP:0002619, HP:0000520, HP:0007380

CasePresentingHPOsFreeText: Dilated lateral scleral vasculature

CaseNOTHPOs: HP:0000823, HP:0001433, HP:0001256

CaseNOTHPOSFreeText:

CasePreviousTesting: Direct sequencing of AIFM2, ADAMTS14, EIF4EBP2, C10ORF54, PPA1, H2AFY2, LRRC20, NODAL, PRF1, TYSND1, SAR1A, PSAP, NPFFR1, and C10ORF27

CaseGenotypingMethod: Microarray, homozygosity mapping, haplotype analysis, direct sequencing of exons of SLC29A3

Variant: G427S homozygous

ClinVarID: or CAID: 563/CA114349

gnomAD: The missense variant G427S is present in gnomAD v4.0.0 with a MAF=0.00005339 (4/74926 alleles) in the African/African American population and 0 homozygotes.

AddCaseInfo: Consanguineous parents, not genotyped. 3 additional affected family members

PreviouslyPublished: n/a

VariantEvidence: Functional studies in Xenopus oocytes demonstrated that G427S results in a total loss of transport activity (Kang et al. 2010; PMID: 20595384).

Case: Family I Proband III-6, female, 20yo at report

CasePresentingHPOs: HP:0000953, HP:0000998, HP:0030053, HP:0001822, HP:0000365, HP:0001698, HP:0012385, HP:0034373, HP:0002619, HP:0000520, HP:0007380

CasePresentingHPOsFreeText: Dilated lateral scleral vasculature

CaseNOTHPOs: HP:0000823, HP:0001433, HP:0001256

CaseNOTHPOSFreeText:

CasePreviousTesting: Direct sequencing of AIFM2, ADAMTS14, EIF4EBP2, C10ORF54, PPA1, H2AFY2, LRRC20, NODAL, PRF1, TYSND1, SAR1A, PSAP, NPFFR1, and C10ORF27

CaseGenotypingMethod: Microarray, homozygosity mapping, haplotype analysis, direct sequencing of exons of SLC29A3

Variant: G427S homozygous

ClinVarID: or CAID: 563/CA114349

gnomAD: The missense variant G427S is present in gnomAD v4.0.0 with a MAF=0.00005339 (4/74926 alleles) in the African/African American population and 0 homozygotes.

AddCaseInfo: Consanguineous parents, not genotyped. 3 additional affected family members

PreviouslyPublished: n/a

VariantEvidence: Functional studies in Xenopus oocytes demonstrated that G427S results in a total loss of transport activity (Kang et al. 2010; PMID: 20595384).