Severe microcephaly

Gene: WDR73

Green List (high evidence)

WDR73 (WD repeat domain 73)
EnsemblGeneIds (GRCh38): ENSG00000177082
EnsemblGeneIds (GRCh37): ENSG00000177082
OMIM: 616144, Gene2Phenotype
WDR73 is in 14 panels

2 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 enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green following advice from Genomics England clinicians: >3 cases of WDR73 mutations causing Galloway-Mowat syndrome- although this disorder presents with postnatal microcephaly, WDR73 is reasonable to include on the panel because microcephaly is very very early onset, and has even been reported in-utero in PMID:18019379.
Created: 9 Feb 2017, 9:38 a.m.
Although Galloway-Mowat syndrome (OMIM:251300), presents with postnatal microcephaly (PMID:25466283), PMID:18019379 present a case where microcephaly is recorded in-utero.
Created: 19 Jan 2017, 11:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Galloway-Mowat syndrome, 251300
OMIM
616144
Clinvar variants
Variants in WDR73
Penetrance
Complete
Publications
  • PMID:18019379 report on a 31-year-old pregnant woman with abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation.
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDR73.

2 Mar 2017, Gel status: 4

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.

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Jan 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for WDR73 were set to PMID:18019379 report on a 31-year-old pregnant woman with abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation.

19 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WDR73 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

19 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WDR73 was created by rfoulger