VACTERL-like phenotypes

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

Muriel Holder (Clinical Genetics, Guy's Hospital)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Many FA cases present with VACTERL-H. Confirmed in OMIM
Created: 10 May 2016, 8:59 a.m.

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

FANCB was added to VACTERL-like phenotypepanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FANCB was added to VACTERL-like phenotypepanel. Sources: Illumina TruGenome Clinical Sequencing Services