case subject (IV-3, family B
Case# IV-3, Female
CasePresentingHPOs HP:0007642
CasePreviousTesting Excluded mutations in other genes associated with CSNB
CaseMethod1 Sanger
Variant NM_002075.3(GNB3):c.200C>T (p.Ser67Phe)
ClinVar 242986
gnomAD 0.00004564(European(Non-Finnish)), 0.00002475(Overall)
VariantEvidence none
family A
Family#PresentingHPOs HP:0007642
FamilyNotHPOs HP:0031605
CountryOrigin Canada
Ethnicity Nonhispanic
Race White
Family#PreviousTesting Mutation analysis of 17 known CSNB genes and 114 retinal dystrophy genes was negative. Eye examinations and ISCEV standard ERG testing was performed
Family#Method1 WES
Family#Method2 Sanger (on III-2)
Affected 3
Unaffected 8
Segregations 3
eLOD 2.20
ProbandLabel III-2, Male
Variant NM_002075.3(GNB3):c.1017G>A (p.Trp339Ter), NM_002075.3(GNB3):c.170_172delAGA (p.Lys57del)
ClinVar 242984, 242985
gnomAD N/A
FamilyAddInfo not consanguineous
The proband, a male child with several siblings (GC20578) born to Somali parents, initially presented several years earlier with horizontal nystagmus and intermittent convergent squint
Case#: GC20578
PresentingHPOs:HP:0000666, HP:0000486, HP:0000540, HP:0001103
PresentingHPOsText: Horizontal nystagmus, strabismus, difficulties with near vision, bilateral central macular disturbance.
CaseNotHPOs: HP:0007642, HP:0031605
CaseNotHPOsText: No night blindness, no fundus abnormalities
CasePreviousTesting: "Previous extensive genetic testing results were negative"
CaseGenotypingMethod1: WES
CaseGenotypingMethod1: Confirmed by bidirectional Sanger sequencing.
Variant: NM_002075.3: c.124C>T (p.Arg42Ter), homozygous
ClinVar: Not in ClinVar
CAID: CA6417419
gnomAD: Pop max MAF 0.00006706 (Latino). No homozygotes.