Early-onset Dementia
Gene: KIF5AEnsemblGeneIds (GRCh38): ENSG00000155980
EnsemblGeneIds (GRCh37): ENSG00000155980
OMIM: 602821, Gene2Phenotype
KIF5A is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
ALS-FTD phenotype has been reported in two families with KIF5A variants. The mechanism of disease is likely gain of function.
Sources: OtherCreated: 7 Dec 2024, 12:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670
- OMIM
- 602821
- Clinvar variants
- Variants in KIF5A
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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
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, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: KIF5A was added gene: KIF5A was added to Early-onset Dementia. Sources: Other Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 33077544; 36604770 Phenotypes for gene: KIF5A were set to Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670 Mode of pathogenicity for gene: KIF5A was set to Other Review for gene: KIF5A was set to AMBER