Non-syndromic familial congenital anorectal malformations
Gene: FANCB
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Comment on phenotypes: Added phenotypes from OMIM and Gene2PhenotypeCreated: 1 Nov 2018, 12:49 p.m.
Gene is on expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)Created: 19 Sep 2018, 4:15 p.m.
Comment on list classification: Rating green as 3 unrelated cases of patients with variants in FANCB and VACTERL or VACTERL-like phenotypes that include anorectal malformations.Created: 6 Sep 2018, 3:58 p.m.
FANCB is on the Illumina and UKGTN lists for VACTERL Association with Hydrocephalus and
Vacterl Association, X-Linked, With Or Without Hydrocephalus. Winberg et al 2014 (24416387) report a male fetus FC10, with anal atresia, a complex Fallot-like heart malformation, horseshoe kidney, bilateral rudimentary thumbs and a malformed right ear with atresia of the external auditory canal, in which a hemizygous 0.1–0.4 Mb deletion of the FANCB gene was identified. The mother was a healthy carrier. FC10 also had a 2.8 Mb-duplication on chromosome 16, dup(16)(p13.11p12.3). Mikat et al 2016 (PMID:26683739) report a case of an infant with VACTERL-H phenotype which included anal atresia. Sequencing of the FANCB gene in the mother and the affected male infant identified a heterozygous nonsense mutation in the mother (c.832C>T; p.Q278*) and the same hemizygous mutation in the patient. Watanabe et al 2017 (PMID: 29232005) report a case of X-linked VACTERL-H caused by deletion of exon 3 in FANCB. The patient's phenotype included imperforate anus. The mother had one copy of exon 3.Created: 4 Aug 2018, 10:27 p.m.
Eleanor Williams: FANCB is on the Illumina and U
Phenotypes for gene: FANCB were changed from Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus to Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus; Fanconi anemia, complementation group B 300514; FANCB-RELATED FANCONI ANEMIA
Gene: fancb has been classified as Green List (High Evidence).
Added phenotypes anorectal malformation for gene: FANCB
Source Expert list was added to FANCB. Added phenotypes anorectal malformation for gene: FANCB
Gene: fancb has been classified as Green List (High Evidence).
UKGTN was added to FANCB. Panel: Non-syndromic familial congenital anorectal malformations Phenotypes for gene FANCB were set to VACTERL Association with Hydrocephalus, Vacterl Association, X-Linked, With Or Without Hydrocephalus
Literature was added to FANCB. Panel: Non-syndromic familial congenital anorectal malformations Publications for gene FANCB was set to ['29232005', '24416387', '26683739']
Phenotypes for gene FANCB were set to VACTERL Association with Hydrocephalus
FANCB was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Illumina TruGenome Clinical Sequencing Services
FANCB was created by Eleanor Williams