Radial dysplasia
Gene: FANCBComment when marking as ready: Sufficient cases for causation from reviews. Causes FA and therefore radial dysplasia is an associated phenotypeCreated: 11 May 2017, 9:41 a.m.
Comment when marking as ready: Relevant phenotype and sufficient cases to support causation.Created: 9 Mar 2017, 11:36 a.m.
Comment on list classification: Kept rating as Green: Confirmed DD-G2P FA gene. >3 unrelated cases.Created: 9 Mar 2017, 11:35 a.m.
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
Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
Publications for FANCB were set to 15502827
FANCB was added to Radial dysplasiapanel. Sources: Expert list
Model of inheritance for gene FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
FANCB was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCB was added to Radial dysplasiapanel. Source: Eligibility statement prior genetic testing
FANCB was added to Radial dysplasiapanel. Source: UKGTN
FANCB was added to Radial dysplasiapanel. Source: Emory Genetics Laboratory
FANCB was created by rfoulger
FANCB was added to Radial dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services