Miscellaneous Metabolic Disorders
Gene: WDR45EnsemblGeneIds (GRCh38): ENSG00000196998
EnsemblGeneIds (GRCh37): ENSG00000196998
OMIM: 300526, Gene2Phenotype
WDR45 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The WDR45 gene has an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.
More than 20 unrelated individuals reported. XLD.
Sources: Expert listCreated: 29 Jan 2021, 9:01 p.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, MIM# 300894
Publications
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 30842224; probands with RETT-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. Total of 4 families with SNV in WDR45Created: 20 Apr 2020, 2:55 a.m. | Last Modified: 20 Apr 2020, 2:55 a.m.
Panel Version: 0.2361
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rett syndrome; Rett-like phenotypes
Publications
- PMID: 30842224
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr45 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wdr45 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WDR45 was added gene: WDR45 was added to Miscellaneous Metabolic Disorders. 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 23176820 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894 Review for gene: WDR45 was set to GREEN