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Intellectual disability

Gene: WDR4

Amber List (moderate evidence)

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

2 reviews

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Primordial dwarfism
  • motor and speech delay
  • intellectual disability
  • global developmental delay.
OMIM
605924
Clinvar variants
Variants in WDR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: WDR4 were set to 29597095; 26416026

16 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: wdr4 has been classified as Amber List (Moderate Evidence).

4 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR4 was added to Intellectual disability panel. Sources: Literature

4 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

WDR4 was created by Ellen McDonagh