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Limb disorders

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

5 reviews

Eleanor Williams (Genomics England Curator)

MOI in OMIM and Gene2Phenotype is XLR/hemizygous, but keeping XLD here as this should catch all cases.
Created: 11 Dec 2018, 10:58 a.m.

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group B, 300514
  • VACTERL Association with Hydrocephalus
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
  • Fanconi Anemia, Complementation Group B
  • VACTERL-Hydrocephalus Syndrome
  • Fanconi Anemia, X-Linked
  • Radial Ray abnormality
  • Fanconi Anemia Type B
OMIM
300515
Clinvar variants
Variants in FANCB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Comment on list classification

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to FANCB. Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Fanconi anemia, complementation group B, 300514; VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; Fanconi Anemia, Complementation Group B; VACTERL-Hydrocephalus Syndrome; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB Publications for gene FANCB were changed from to 15502827

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FANCB was created by Ellen McDonagh