Neurodegeneration with brain iron accumulation
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
1 review
Sangavi Sivagnanasundram (Melbourne Health)
The disease is characterise by DD in early childhood with slow motor and cognitive gains in early adulthood. WDR45 is associated with 40-45% of all NBIA reported cases. >3 unrelated cases reported with brain iron accumulation on MRI and variants in WDR45.
Classified as Definitive by ClinGen Epilepsy GCEP on 28/6/2019 - https://search.clinicalgenome.org/CCID:006546Created: 4 Dec 2024, 3:53 a.m. | Last Modified: 4 Dec 2024, 3:53 a.m.
Panel Version: 0.35
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
X-linked complex neurodevelopmental disorder MONDO:0100148
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
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- Beta-propeller protein-associated neurodegeneration (BPAN)
- OMIM
- 300526
- Clinvar variants
- Variants in WDR45
- Penetrance
- None
- 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
10 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WDR45 was added gene: WDR45 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews 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) Phenotypes for gene: WDR45 were set to Beta-propeller protein-associated neurodegeneration (BPAN)