Cerebral Palsy
Gene: WDR45EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 14 panels
1 review
Chirag Patel (Genetic Health Queensland)
Established gene for neurodevelopmental/degenerative disorder with spasticity and dystonia. Moreno-De-Luca et al. (2021) reported 4 patients with CP with P/LP variants.
Zahrani et al. (2021) reported 2 patients with dystonic/hypotonic CP with variants.
Sources: LiteratureCreated: 7 Oct 2021, 1:25 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Neurodegeneration with brain iron accumulation 5, OMIM # 300894
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 5, OMIM # 300894
- OMIM
- 300526
- Clinvar variants
- Variants in WDR45
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cerebral Palsy
- Early-onset Parkinson disease
- Regression
- Miscellaneous Metabolic Disorders
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Fetal anomalies
- Angelman Rett like syndromes
- Dystonia - complex
- Mendeliome
- Brain Calcification
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr45 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WDR45 were set to PMID: 33528536, 34364746
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: wdr45 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: wdr45 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: wdr45 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: WDR45 was added gene: WDR45 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR45 were set to PMID: 33528536, 34364746 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, OMIM # 300894 Review for gene: WDR45 was set to GREEN