IUGR and IGF abnormalities

Gene: FANCB

Green List (high evidence)

FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 17 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green gene on the Non-Fanconi anaemia gene panel that should also be included on this panel.
7 Jun 2016, 12:27 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • VACTERL Association with Hydrocephalus
OMIM
300515
Clinvar variants
Variants in FANCB
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

7 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FANCB were set to

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to IUGR and IGF abnormalitiespanel. Sources: Expert review

14 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FANCB was created by ellenmcdonagh