Paediatric disorders - additional genes
Gene: WBP11
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 10:54 a.m. | Last Modified: 31 Jan 2023, 10:54 a.m.
Panel Version: 2.7
Comment on list classification: Promoting to amber but with a recommendation for green rating at the next GMS review.Created: 11 Feb 2021, 8:38 p.m. | Last Modified: 11 Feb 2021, 8:38 p.m.
Panel Version: 1.84
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.
Sources: LiteratureCreated: 11 Feb 2021, 8:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Publications
Tag Q2_21_rating was removed from gene: WBP11.
Source Expert Review Green was added to WBP11. Source NHS GMS was added to WBP11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag gene-checked tag was added to gene: WBP11.
Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227
Gene: wbp11 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: WBP11.
gene: WBP11 was added gene: WBP11 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WBP11 were set to 33276377 Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Review for gene: WBP11 was set to GREEN