Early-onset Parkinson disease
Gene: WASLEnsemblGeneIds (GRCh38): ENSG00000106299
EnsemblGeneIds (GRCh37): ENSG00000106299
OMIM: 605056, Gene2Phenotype
WASL is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported, where bi-allelic variants segregated with PD in three affected individuals.Created: 26 Jul 2022, 3:23 a.m. | Last Modified: 26 Jul 2022, 3:23 a.m.
Panel Version: 0.227
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson's disease, MONDO:0005180, WASL-related
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)
Sources: LiteratureCreated: 22 Jul 2022, 6:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early onset parkinsonism
Publications
- PMID: 33571872
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Parkinson's disease, MONDO:0005180, WASL-related
- OMIM
- 605056
- Clinvar variants
- Variants in WASL
- Penetrance
- None
- Publications
-
- PMID: 33571872
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wasl has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WASL were changed from Early onset parkinsonism to Parkinson's disease, MONDO:0005180, WASL-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wasl has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
SHEKEEB MOHAMMAD (Children's Hospital at Westmead)gene: WASL was added gene: WASL was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: WASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WASL were set to PMID: 33571872 Phenotypes for gene: WASL were set to Early onset parkinsonism Review for gene: WASL was set to GREEN