Hydrocephalus
Gene: FANCBComment on phenotypes: Previous phenotypes:
VACTERL Association with Hydrocephalus;Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752;VACTERLX;Fanconi anemia, complementation group B, OMIM:300514Created: 25 Mar 2021, 4:15 p.m. | Last Modified: 25 Mar 2021, 4:15 p.m.
Panel Version: 2.34
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 GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
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.
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
Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514 to Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752; Fanconi anemia, complementation group B, OMIM:300514
Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B 300514 to VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514
Source NHS GMS was added to FANCB.
31.05.2017 - panel revised after internal curation and clinical review.
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)
This gene has been classified as Green List (High Evidence).
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
Publications for FANCB were set to 21910217; 15502827
Mode of inheritance for FANCB was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
FANCB was added to Hydrocephaluspanel. Source: UKGTN Model of inheritance for gene FANCB was set to Unknown
FANCB was added to Hydrocephaluspanel. Sources: Illumina TruGenome Clinical Sequencing Services
FANCB was created by oniblock