CAKUT

Gene: WBP11

Green List (high evidence)

Comment on list classification: Added to the panel at the suggestion of Genomics England clinicians. Promoting from red to green based on 4 unrelated cases with a renal phenotype.

Created: 11 Feb 2021, 9:03 p.m. | Last Modified: 11 Feb 2021, 9:03 p.m.

Panel Version: 1.160

PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.

A renal phenotype was seen in 5/13 patients from 4 families.
Sources: Literature

Created: 11 Feb 2021, 8:59 p.m. | Last Modified: 11 Feb 2021, 9:02 p.m.

Panel Version: 1.159

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems

Publications

• 33276377