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This Panel is marked as Internal

Newborns main panel
Gene: FANCB

FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

Association of clinical severity with FANCB variant type in Fanconi anemia - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

MOI reviewed by clinical team. Mafalda Gomes comment: Females who inherit the pathogenic variant will be carriers and will usually not be affected.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.

Panel Version: 0.40

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

Phenotypes
Fanconi anemia, complementation group B

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance

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

Sources

Expert Review Amber

Phenotypes

Fanconi anemia, complementation group B

OMIM

Clinvar variants

Variants in FANCB

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FANCB. Added phenotypes Fanconi anemia, complementation group B for gene: FANCB Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: FANCB was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene FANCB was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group B for gene: FANCB

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group B for gene: FANCB

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FANCB. Added phenotypes Fanconi anemia, complementation group B for gene: FANCB Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to FANCB. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group B for gene: FANCB

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FANCB was added gene: FANCB was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females