Intellectual disability
Gene: WDR4

WDR4 (WD repeat domain 4)
EnsemblGeneIds (GRCh38): ENSG00000160193
EnsemblGeneIds (GRCh37): ENSG00000160193
OMIM: 605924, Gene2Phenotype
WDR4 is in 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.

Panel Version: 3.1519

Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases, all with moderate to severe ID. Therefore, there is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 5 May 2021, 9:17 a.m. | Last Modified: 5 May 2021, 9:17 a.m.

Panel Version: 3.1062

Created: 5 May 2021, 9:17 a.m.
Last Modified: 5 May 2021, 9:17 a.m.
Panel version: 3.1062

Louise Daugherty (Genomics England Curator)

Comment on list classification: After internal clinical review it was decided to changed from Red to Amber, based upon the two reported cases.
Created: 16 Jul 2018, 8:57 a.m.

Created: 16 Jul 2018, 8:57 a.m.

Panel version: 2.134

Ellen McDonagh (Genomics England Curator)

Not associated with a disease in OMIM or Gene2Phenotype.
Created: 4 Apr 2018, 3:26 p.m.

PMID: 29597095 - new publication reported biallelic variants in a 6-year old boy with Primordial dwarfism who had short statue, motor and speech delay and intellectual disability - the diagnosis of this patient in clinical was global developmental delay. Two novel variants in this gene were identified (a missense and a frameshift), one inherited from each parent. Two families reported in PMID: 26416026, with a single shared homozygous haplotype identified in the probands with primordial dwarfism in which severe growth deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis of corpus callosum, and simplified gyration), and severe encephalopathy with seizures. A shared variants was identified within this haplotype, which may be a founder mutation.
Created: 4 Apr 2018, 3:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primordial dwarfism; motor and speech delay; intellectual disability; global developmental delay.

Publications

Created: 4 Apr 2018, 3:25 p.m.

Panel version: 2.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Galloway-Mowat syndrome 6, OMIM:61834
Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347

OMIM

605924

Clinvar variants

Variants in WDR4

Penetrance

None

Publications

Panels with this gene