Severe microcephaly

Gene: WDR4

Amber List (moderate evidence)

WDR4 (WD repeat domain 4)
EnsemblGeneIds (GRCh38): ENSG00000160193
EnsemblGeneIds (GRCh37): ENSG00000160193
OMIM: 605924, Gene2Phenotype
WDR4 is in 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Comment on publications: added PMID:29597095
Created: 16 Jul 2018, 8:58 a.m.
Comment on list classification: After internal clinical review it was decided to change rating from Red to Amber, based upon the two reported cases.
Created: 16 Jul 2018, 8:56 a.m.

Ellen McDonagh (Genomics England Curator)

Not associated with a disease in OMIM or Gene2Phenotype.
Created: 4 Apr 2018, 3:35 p.m.
Comment on publications: 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.
Created: 4 Apr 2018, 3:21 p.m.

Rebecca Foulger (Genomics England curator)

Shaheen et al., 2015 (PMID:26416026) study 2 presumably unrelated consanguineous families with an apparently novel form of microcephalic primordial dwarfism. The 2 patients were both homozygous for c.509G>T; p.Arg170Leu. Note that although the 2 families have different surnames, they come from the same geographic location in Egypt and share a single homozygous haplotype.
Created: 28 Feb 2017, 11:24 a.m.
WDR4 is on the Expert list for MPD (microcephalic primordial dwarfism) from Andrew Jackson, but with the caution that only a single mutation or family is reported in the literature.
Created: 13 Dec 2016, 12:10 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
OMIM
605924
Clinvar variants
Variants in WDR4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDR4.

16 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: WDR4 were set to 26416026; 29597095

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

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for WDR4 was changed from to BIALLELIC, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for WDR4 were set to 26416026

2 Mar 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

28 Feb 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for WDR4 were set to 26416026

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WDR4 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WDR4 was created by rfoulger