Hereditary Neuropathy_CMT - isolated
Gene: KIF5AEnsemblGeneIds (GRCh38): ENSG00000155980
EnsemblGeneIds (GRCh37): ENSG00000155980
OMIM: 602821, Gene2Phenotype
KIF5A is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mutations in the KIF5A are associated with a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Marie-Tooth peripheral neuropathy type 2 (CMT2).
Multiple families reported with neuropathy alone as well as HSP in association with neuropathy.Created: 6 May 2021, 10:45 a.m. | Last Modified: 6 May 2021, 10:45 a.m.
Panel Version: 0.114
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Hereditary Neuropathies
- HMSN
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif5a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant; Hereditary Neuropathies; HMSN to Hereditary Neuropathies; HMSN
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KIF5A were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: KIF5A was added gene: KIF5A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant; Hereditary Neuropathies; HMSN