Limb disorders
Gene: FANCBMOI in OMIM and Gene2Phenotype is XLR/hemizygous, but keeping XLD here as this should catch all cases.Created: 11 Dec 2018, 10:58 a.m.
Comment 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
Rebecca Foulger: Comment on list classification
Source Expert Review Green was added to FANCB. Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Fanconi anemia, complementation group B, 300514; VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; Fanconi Anemia, Complementation Group B; VACTERL-Hydrocephalus Syndrome; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB Publications for gene FANCB were changed from to 15502827
FANCB was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
FANCB was created by Ellen McDonagh