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Skeletal dysplasia

Gene: WBP11

Amber List (moderate evidence)

WBP11 (WW domain binding protein 11)
EnsemblGeneIds (GRCh38): ENSG00000084463
EnsemblGeneIds (GRCh37): ENSG00000084463
WBP11 is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting from red to amber with recommendation for a green rating following GMS review.
Created: 11 Feb 2021, 8:32 p.m. | Last Modified: 11 Feb 2021, 8:32 p.m.
Panel Version: 2.83
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.

Vertebral anomalies were noted in 6/13 patients from 5 families. One patient had congenital scoliosis and one abnormalities of the right upper ribs. Genomics England clinical team suggest it just meets the threshold for the skeletal dysplasia panel.
Sources: Literature
Created: 11 Feb 2021, 8:30 p.m.

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

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227
Tags
Q2_21_rating
Clinvar variants
Variants in WBP11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

11 Feb 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: WBP11.

11 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wbp11 has been classified as Amber List (Moderate Evidence).

11 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: WBP11 was added gene: WBP11 was added to Skeletal dysplasia. 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