VACTERL-like phenotypesGene: FANCB
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Comment when marking as ready: Many FA cases present with VACTERL-H. Confirmed in OMIM
Created: 10 May 2016, 8:59 a.m.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FANCB was added to VACTERL-like phenotypepanel. Sources: UKGTN
FANCB was added to VACTERL-like phenotypepanel. Sources: Illumina TruGenome Clinical Sequencing Services