Cerebral Palsy
Gene: WDR26
WDR26 (WD repeat domain 26)
EnsemblGeneIds (GRCh38): ENSG00000162923
EnsemblGeneIds (GRCh37): ENSG00000162923
OMIM: 617424, Gene2Phenotype
WDR26 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000162923
EnsemblGeneIds (GRCh37): ENSG00000162923
OMIM: 617424, Gene2Phenotype
WDR26 is in 5 panels
1 review
Luisa Weiss (University of Adelaide)
Two large CP cohort studies with 3 individual patients harbouring de novo missense or nonsense mutations or whole gene deletions in WDR26.
Sources: LiteratureCreated: 8 Jun 2023, 11:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Skraban-Deardorff syndrome MIM#617616
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Skraban-Deardorff syndrome MIM#617616
- OMIM
- 617424
- Clinvar variants
- Variants in WDR26
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
10 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr26 has been classified as Green List (High Evidence).
10 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr26 has been classified as Green List (High Evidence).
8 Jun 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: WDR26 was added gene: WDR26 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR26 were set to 33528536; 34788679 Phenotypes for gene: WDR26 were set to Skraban-Deardorff syndrome MIM#617616 Review for gene: WDR26 was set to GREEN