Microcephaly
Gene: WDR4

WDR4 (WD repeat domain 4)
EnsemblGeneIds (GRCh38): ENSG00000160193
EnsemblGeneIds (GRCh37): ENSG00000160193
OMIM: 605924, Gene2Phenotype
WDR4 is in 5 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 26416026: 2 individuals from apparently unrelated consanguineous Egyptian families with a form of primordial dwarfism had the same homozygous missense variant. One had head circumference −10.7 SD at 20mo, the other −8.9 SD at 17mo.

PMID 28617965: 2 sibs from unrelated French parents were chet for a missense variant and a frameshift variant, and had a form of primordial dwarfism. They had head circumferences of less than −5SD at ~18yo and ~16yo.

Other individuals with microcephaly have been reported but without specific measurements.
Created: 31 Aug 2020, 7:40 a.m. | Last Modified: 31 Aug 2020, 7:40 a.m.

Panel Version: 0.213

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 6 MIM#618347

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Aug 2020, 7:40 a.m.
Last Modified: 31 Aug 2020, 7:40 a.m.
Panel version: 0.213

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Galloway-Mowat syndrome 6 MIM#618347

OMIM

605924

Clinvar variants

Variants in WDR4

Penetrance

None

Publications

Panels with this gene