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Intellectual disability

Gene: WBP4

Amber List (moderate evidence)
WBP4 (WW domain binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000120688
EnsemblGeneIds (GRCh37): ENSG00000120688
OMIM: 604981, Gene2Phenotype
WBP4 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

WBP4 variants have been associated with Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (OMIM:620852). PMID: 37963460 reports four apparently loss of function WBP4 variants in four unrelated cases.
Sources: Literature
Created: 5 Dec 2024, 5:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852; neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MONDO:0971043

Created: 5 Dec 2024, 5:10 p.m.

Panel version: 8.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852
  • neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MONDO:0971043
Tags
Q4_24_NHS_review Q4_24_promote_green
OMIM
604981
Clinvar variants
Variants in WBP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2024, Gel status: 2

Removed Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_22_promote_green was removed from gene: WBP4. Tag Q4_24_promote_green tag was added to gene: WBP4.

5 Dec 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: WBP4 were set to

5 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: wbp4 has been classified as Amber List (Moderate Evidence).

5 Dec 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: WBP4 was added gene: WBP4 was added to Intellectual disability. Sources: Literature Q4_24_NHS_review, Q4_22_promote_green tags were added to gene: WBP4. Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WBP4 were set to Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852; neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MONDO:0971043 Review for gene: WBP4 was set to GREEN