Hirschsprung disease

Gene: ZEB2

Green List (high evidence)

PMID: 29300384;
87 patients in this report including whole gene deletions (9x), large exonic deletions (3x). Authors note that while missense variants have been reported, they are rare and are associated with milder phenotypes. Therefore, debatable if most of these atypical cases should be classified as MWS.

Phenotypes in this series include Seizures (79%), Microcephaly >=2SD (78%), Hypospadias in males (60%), Congenital heart defects (58%), Short stature >=2SD (46%), Hirschsprung disease (HSCR) (44%), Cryptorchidism in males (41%), Constipation (w/o known HSCR) (29%), Renal anomalies (25%), Structural eye anomalies (10%), Pyloric stenosis (7%), Pulmonary artery sling (3%), Cleft palate (2%).

Created: 20 Oct 2020, 10:10 a.m. | Last Modified: 20 Oct 2020, 10:10 a.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mowat-Wilson syndrome (MIM#235730)

Publications

• 29300384