Neurofibromatosis Type 1Gene: FANCB
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Updated MOI from hemizygous, biallelic to hemizygous monoallelic, after discussion with Helen Brittain. This will ensure a female proband with incomplete X skewing and manifestations can be picked up, in addition to a biallelic case.
Created: 29 May 2017, 9:35 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fanconi anemia complementation group B
Mode of inheritance for FANCB was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Panel finalised 14th November 2016
This gene has been classified as Green List (High Evidence).
Publications for FANCB were set to 15502827
FANCB was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
FANCB was created by agardham