Among the 390 probands and 16 pseudodominant relatives in the cohort, 736 instances of 241 different alleles of the ABCA4 gene were observed (Table S2, available at www.aaojournal.org). A total of 10% of these alleles harbored terminating variants, 22% harbored splice-altering variants, and 61% harbored missense variants. No disease-causing variants could be found on 7% of the probands' alleles.
Case#: Proband P399, Family F345, male, 8yo at onset, US
DiseaseAssertion:
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: phenotypically focused tiered testing strategy beginning with allele-specific testing of the most common disease alleles and progressing through Sanger sequencing of candidate genes and, in many cases, to next generation sequencing of whole exomes and whole genomes
PreviouslyPublished: n/a
Variant: Pro1380Leu (c.4139C>T); Glu2031Lys (c.6091G>A) phase unconfirmed
ClinVar: 866538
CAID: CA341279017
SupplementalData: table s2 (listed as table 1 when you open it)