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Intellectual disability

Gene: WSB2

Amber List (moderate evidence)
WSB2 (WD repeat and SOCS box containing 2)
EnsemblGeneIds (GRCh38): ENSG00000176871
EnsemblGeneIds (GRCh37): ENSG00000176871
WSB2 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Although intellectual disability has only been noted in one of four families (family with two patients where ID is moderate in one and severity not given in other), the phenotype is syndromic and GDD is present in all four families. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 2 Jan 2026, 12:52 p.m. | Last Modified: 2 Jan 2026, 12:52 p.m.
Panel Version: 9.211
PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. All five patients had global developmental delay. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents.

There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina.

This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen.
Sources: Literature
Created: 2 Jan 2026, 12:41 p.m. | Last Modified: 2 Jan 2026, 2 p.m.
Panel Version: 9.211

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 2 Jan 2026, 12:41 p.m.
Last Modified: 2 Jan 2026, 2 p.m.
Panel version: 9.210

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q1_26_promote_green
Clinvar variants
Variants in WSB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jan 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: wsb2 has been classified as Amber List (Moderate Evidence).

2 Jan 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: WSB2.

2 Jan 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WSB2 was added gene: WSB2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WSB2 were set to 40374945 Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: WSB2 was set to GREEN