Childhood solid tumours
Gene: FANCB
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi anemia, complementation group B, 300514
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, 9:36 a.m.
Source NHS GMS was added to FANCB. Added phenotypes Fanconi anemia, complementation group B, 300514 for gene: FANCB
Source Expert List was added to FANCB. Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FANCB was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory
Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen