Hydrocephalus

Gene: FANCB

Green List (high evidence)

FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 22 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

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, 9:38 a.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Established causation. Hydrocephalus is a major feature of this cause of multiple congenital anomalies. Therefore an appropriate phenotype.
Created: 29 Mar 2017, 1:34 p.m.
From OMIM; "Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus."
"Ventriculomegaly, absent thumbs and radii, or hypoplastic thumbs, and abnormal chromosome breakage are cardinal features."
This is an x-linked form of Fanconi anaemia, but in view of the severity of the congenital anomalies, of which hydrocephalus is a key feature, infants may not survive to the stage where anaemia develops. Therefore it is detected by the presence of major congenital anomalies and as hydrocephalus is one, this seems appropriate for inclusion. Sufficient cases reported for causation.
Created: 29 Mar 2017, 1:19 p.m.

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

Phenotypes
Fanconi anemia, complementation group B 300514

Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FANCB.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

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)

29 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

29 Mar 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for FANCB were set to VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B 300514

29 Mar 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for FANCB were set to 21910217; 15502827

29 Mar 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

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

29 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

9 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

FANCB was added to Hydrocephaluspanel. Source: UKGTN Model of inheritance for gene FANCB was set to Unknown

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

FANCB was added to Hydrocephaluspanel. Sources: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

FANCB was created by oniblock