Early-onset Parkinson disease
Gene: KIF5AEnsemblGeneIds (GRCh38): ENSG00000155980
EnsemblGeneIds (GRCh37): ENSG00000155980
OMIM: 602821, Gene2Phenotype
KIF5A is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Parkinsonism is reported in two families with complicated SPG10.Created: 26 Mar 2020, 3:29 a.m. | Last Modified: 26 Mar 2020, 3:29 a.m.
Panel Version: 0.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 10, autosomal dominant MIM#604187
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Spastic paraplegia 10, autosomal dominant MIM#604187
- OMIM
- 602821
- Clinvar variants
- Variants in KIF5A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early-onset Parkinson disease
- Motor Neurone Disease
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Optic Atrophy
- Mendeliome
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
History Filter Activity
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: KIF5A were changed from to Spastic paraplegia 10, autosomal dominant MIM#604187
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: KIF5A were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: KIF5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kif5a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kif5a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KIF5A was added gene: KIF5A was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: KIF5A was set to Unknown