Paediatric pseudo-obstruction syndrome
Gene: ZEB2
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: This gene should be rated GREEN as it is associated with Hirschsprung Disease in at least four unrelated cases.
More details on the association of Zeb2 with Hirschsprung Disease can be found in the Familial Hirschsprung Disease panel: https://panelapp.genomicsengland.co.uk/panels/63/gene/ZEB2/.
4 of 5 patients reported in PMID:11279515 were identified with pathogenic variants in Zeb2 gene and had Hirschsprung disease associated with microcephaly, mental retardation, epilepsy, and characteristic facial features of Mowat-Wilson syndrome.
This gene has been associated with phenotypes in both OMIM and G2P.Created: 2 Jan 2023, 10:02 p.m. | Last Modified: 2 Jan 2023, 10:02 p.m.
Panel Version: 0.167
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome, OMIM:235730
Publications
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Not given.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Mowat-Wilson syndrome with a variable predisposition to HSCR
Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, OMIM:235730
Publications for gene: ZEB2 were set to
Mode of inheritance for gene: ZEB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: zeb2 has been classified as Green List (High Evidence).
gene: ZEB2 was added gene: ZEB2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ZEB2 was set to