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IBMDx study

Gene: FANCB

Green List (high evidence)
FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure.
Created: 15 Jun 2021, 11:16 a.m. | Last Modified: 15 Jun 2021, 11:16 a.m.
Panel Version: 0.249

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Fanconi anaemia, complementation group B, MIM# 300514

Publications

Created: 15 Jun 2021, 11:16 a.m.
Last Modified: 15 Jun 2021, 11:16 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.249

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FANCB was added gene: FANCB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: FANCB was set to Unknown Phenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514