Early-onset Dementia
Gene: WDR45EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
De novo variants identified in 5 female cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature.
Sources: Expert listCreated: 6 Feb 2020, 8:09 a.m. | Last Modified: 6 Feb 2020, 8:10 a.m.
Panel Version: 0.16
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 MIM#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
- Expert list
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 5 MIM#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
Bryony Thompson (Royal Melbourne Hospital)Gene: wdr45 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WDR45 was added gene: WDR45 was added to Early-onset Dementia. Sources: Expert list 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 23435086 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894 Review for gene: WDR45 was set to GREEN