Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ZEB2
CSS has been reported in 4/214 cases (1.9%) - rare complication or coincidence? From Zollino et al 2017 Front Neurosci. Clearly the association is rare and CSS is probably secondary, but fulfils green criterion ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome - 235730
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ZEB2; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment when marking as ready: Low frequency association with Mowat-Wilson syndrome. Appropriate mutation and other clinical features should be present to confirm diagnosisCreated: 1 Feb 2016, 12:35 p.m.
Low frequency association with Mowat-Wilson syndrome. Appropriate mutation and other clinical features should be present to confirm diagnosisCreated: 15 Sep 2015, 9:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome
Publications
Added phenotypes Mowat-Wilson syndrome 235730 for gene: ZEB2
Source NHS GMS was added to ZEB2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ZEB2 were set to 235730
Publications for ZEB2 were set to 26097173; 25123255; 24300291; 18076118
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
ZEB2 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review