FANCB

Chr X

FA complementation group B

Also known as: FA2, FAAP90, FAAP95, FAB, FACB

NCBI Gene: 2187 ENSG00000181544 UniProt: Q8NB91

This gene encodes a DNA repair protein required for FANCD2 ubiquitination and is assembled into a nucleoprotein complex that repairs DNA lesions. Mutations cause Fanconi anemia complementation group B and can also cause VACTERL syndrome with hydrocephalus. The gene follows X-linked recessive inheritance and is highly constrained against loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFanconi anemia complementation group B

Clinical highlights

Gene-disease validity (ClinGen)

Fanconi anemia complementation group B · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — FANCB