Radial dysplasia

Gene: FANCB

Green List (high evidence)

FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 22 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases for causation from reviews. Causes FA and therefore radial dysplasia is an associated phenotype
Created: 11 May 2017, 9:41 a.m.

Rebecca Foulger (Genomics England curator)

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.

Louise Daugherty (Genomics England Curator)

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

BRIDGE consortium (NIHRBR-RD)

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)

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

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 list
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL Association with Hydrocephalus
  • VACTERL-Hydrocephalus Syndrome
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
  • Fanconi Anemia, Complementation Group B
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • Fanconi Anemia Type B
OMIM
300515
Clinvar variants
Variants in FANCB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for FANCB were set to 15502827

6 Dec 2016, Gel status: 4

Upload gene information

Rebecca Foulger (Genomics England curator)

FANCB was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

18 Oct 2016, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

FANCB was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen

18 Oct 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

FANCB was added to Radial dysplasiapanel. Source: Eligibility statement prior genetic testing

13 Oct 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

FANCB was added to Radial dysplasiapanel. Source: UKGTN

13 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

FANCB was added to Radial dysplasiapanel. Source: Emory Genetics Laboratory

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

FANCB was created by rfoulger

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

FANCB was added to Radial dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services