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This Panel is marked as Internal

Non-Fanconi anaemia
Gene: FANCB

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

3 reviews

Helen Lindsay (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Helen Savage (Congenica Ltd)

Green List (high evidence)

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

Phenotypes
Fanconi anemia complementation group B

Created: 26 Jan 2016, 10:54 a.m.

Panel version: 0.228

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

Sources

Expert list
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Fanconi anemia
Fanconi anemia, complementation group B, 300514
Fanconi Anemia, X-Linked
VACTERL Association with Hydrocephalus

OMIM

Clinvar variants

Variants in FANCB

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: Expert list

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCB was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN