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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Blood Rev. 2019 Jul 16;37:100589. doi: 10.1016/j.blre.2019.100589

Table 3:

Association of Specific Abnormalities with the Gene, FA/BRCA DNA Repair Pathway, and Type of Pathogenic Variant.

Gene Pathway Genotype
Abnormality A B C D1 D2 G I J N P Upstream ID Downstream Null Hypomorphic
At least one abnormality + + +
VACTERL-H Vertebral +
Anal + + +
Cardiac + + +
Tracheo-esophageal fistula +
Esophageal/duodenal atresia +
Renal + + +
upper Limb + + +
Hydrocephalus +
PHENOS Pigmented skin + + +
small Head + + + + + +
small Eyes + +
Neurologic structure +
Otology + + +
Short stature + +
Others Developmental delay + +
Any facial abnormality + +
Lower limb + +
VACTERL-Ha + + +
VACTERL-H alone +
PHENOSb + +
VACTERL-H plus PHENOS + +
At least one (VACTERL-H or PHENOS) + +
Neither VACTERL-H nor PHENOS + +
*p<0.005 *p<0.02 p<0.05

+ positive association between the abnormality and the gene, FA/BRCA DNA repair pathway or type or variant.

*

corrected p-values (Bonferroni)

a

VACTERL-H (Vertebral, Anal, Cardiac, Tracheo-esophageal fistula, Esophageal atresia, Renal, upper Limb and Hydrocephalus)

b

PHENOS (skin Pigmentation, small Head, small Eyes, Neurologic structure, Otology, Short stature)