Tumour predisposition - childhood onset

Gene: FANCB

Green List (high evidence)

FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 25 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27

Lara Hawkes (Genomics England)

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, complementation group B, 300514

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Updated MOI from hemizygous biallelic to hemizygous monoallelic, after discussion with Helen Brittain. This will ensure a female proband with incomplete X skewing and manifestations can be picked up, in addition to a biallelic case.
Created: 29 May 2017, 9:36 a.m.

History Filter Activity

2 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FANCB. Added phenotypes Fanconi anemia, complementation group B, 300514 for gene: FANCB

30 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to FANCB. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 May 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

14 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for FANCB was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Jul 2015, Gel status: 4

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

22 Jul 2015, Gel status: 4

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

22 Jul 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN

22 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory

22 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

22 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen