Lysosomal Storage Disorder
Gene: WDR45
WDR45 (WD repeat domain 45)
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 14 panels
0 reviews
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
- Phenotypes
-
- Disorders of autophagy
- X-linked complex neurodevelopmental disorder MONDO:0100148
- 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
20 May 2024, Gel status: 3
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 Lysosomal Storage Disorder. Sources: Expert Review Green 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 38465922; 29884839 Phenotypes for gene: WDR45 were set to Disorders of autophagy; X-linked complex neurodevelopmental disorder MONDO:0100148