Non-syndromic familial congenital anorectal malformations

Gene: FANCB

Green List (high evidence)

FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels

2 reviews

Charles Shaw-Smith (Royal Devon and Exeter NHS Trust)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added phenotypes from OMIM and Gene2Phenotype
Created: 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.

History Filter Activity

8 Nov 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: FANCB is on the Illumina and U

1 Nov 2018, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

1 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fancb has been classified as Green List (High Evidence).

19 Sep 2018, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes anorectal malformation for gene: FANCB

19 Sep 2018, Gel status: 4

Added New Source, Set Phenotypes

Eleanor Williams (Genomics England Curator)

Source Expert list was added to FANCB. Added phenotypes anorectal malformation for gene: FANCB

6 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fancb has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 2

Added New Source, Set penetrance

Eleanor Williams (Genomics England Curator)

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

14 Aug 2018, Gel status: 1

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Literature was added to FANCB. Panel: Non-syndromic familial congenital anorectal malformations Publications for gene FANCB was set to ['29232005', '24416387', '26683739']

14 Aug 2018, Gel status: 1

Set penetrance

Eleanor Williams (Genomics England Curator)

Phenotypes for gene FANCB were set to VACTERL Association with Hydrocephalus

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

FANCB was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

FANCB was created by Eleanor Williams