Microcephaly
Gene: WDR37

WDR37 (WD repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000047056
EnsemblGeneIds (GRCh37): ENSG00000047056
WDR37 is in 7 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Summary: 7/9 individuals reported with neurooculocardiogenitourinary syndrome had microcephaly. 5 had measurements provided and were severe (-3SD).

PMID 31327510: 4 individuals with de novo missense variants reported, with Neurooculocardiogenitourinary syndrome. All four have microcephaly - 49.5cm at 21yo, 40.2cm at 22mo (-4.8SD), 47.4cm at 7.5yo, but final individual's measurements not provided.

PMID 31327508: 5 probands with de novo missense variants, 3 with microcephaly (0th centile, <3rd centile (-5SD), and 11th centile)
Created: 31 Aug 2020, 6:51 a.m. | Last Modified: 31 Aug 2020, 6:51 a.m.

Panel Version: 0.204

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurooculocardiogenitourinary syndrome MIM#618652

Publications

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

Created: 31 Aug 2020, 6:51 a.m.
Last Modified: 31 Aug 2020, 6:51 a.m.
Panel version: 0.204

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Neurooculocardiogenitourinary syndrome MIM#618652

Clinvar variants

Variants in WDR37

Penetrance

None

Publications

Panels with this gene