Cerebral Palsy
Gene: ZEB2EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals with heterozygous stopgain variants reported in large-scale exome sequencing study (PMID: 38693247).Created: 28 May 2024, 3:22 a.m. | Last Modified: 28 May 2024, 3:22 a.m.
Panel Version: 1.194
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome, MIM # 235730
Publications
- PMID: 38693247
Chirag Patel (Genetic Health Queensland)
Neurodevelopmental disorder with DD, ID, epilepsy, and dysmorphism.
Moreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants.
Zech et al. (2020) reported 1 patient with dystonic CP with de novo variant.
Sources: LiteratureCreated: 7 Oct 2021, 1:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome, OMIM # 235730
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mowat-Wilson syndrome, OMIM # 235730
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Craniosynostosis
- Fetal anomalies
- Clefting disorders
- Angelman Rett like syndromes
- Additional findings_Paediatric
- Microcephaly
- Congenital Heart Defect
- Mendeliome
- Hirschsprung disease
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ZEB2 were set to 33528536; 33098801
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zeb2 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ZEB2 were set to PMID: 33528536, 33098801
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: zeb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: zeb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: zeb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: zeb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: zeb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: zeb2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: zeb2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: ZEB2 was added gene: ZEB2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZEB2 were set to PMID: 33528536, 33098801 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, OMIM # 235730 Review for gene: ZEB2 was set to GREEN