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Intellectual disability

Gene: WBP4

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
Created: 12 Mar 2026, 1:33 p.m.
Last Modified: 12 Mar 2026, 1:33 p.m.
Panel version: 9.299

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 Green
  • NHS GMS
  • 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
OMIM
604981
Clinvar variants
Variants in WBP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_24_NHS_review was removed from gene: WBP4. Tag Q4_24_promote_green was removed from gene: WBP4.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to WBP4. Source Expert Review Green was added to WBP4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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