Structural eye disease
Gene: ZEB2
DB Zweier: Out of 27 families with Mowat_Wilson syndrome, 3 had microphthalmia and one had an Axenfelt anomaly, all four cases had a ZEB2 truncating variantCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia); 235730
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Zweier: Out of 27 families with Mowat_Wilson syndrome, 3 had microphthalmia and one had an Axenfelt anomaly, all four cases had a ZEB2 truncating variantCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia); 235730
Publications
gene: ZEB2 was added gene: ZEB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZEB2 were set to 16053902 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730