Mitochondrial disease
Gene: KIF5AEnsemblGeneIds (GRCh38): ENSG00000155980
EnsemblGeneIds (GRCh37): ENSG00000155980
OMIM: 602821, Gene2Phenotype
KIF5A is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. At least 3 unrelated individuals with de novo LoF variants.
SPG10/CMT: variants are generally in the motor domain.Created: 12 Mar 2022, 1:19 a.m. | Last Modified: 12 Mar 2022, 1:19 a.m.
Panel Version: 0.11286
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; Spastic paraplegia 10, autosomal dominant, MIM# 604187; Myoclonus, intractable, neonatal, MIM# 617235
Publications
Bryony Thompson (Royal Melbourne Hospital)
Three unrelated cases with de novo heterozygous predicted stop-loss variants with read-through of the normal termination codon to create an elongated protein and predicted to be dominant-negative. One of the cases was diagnosed with complex IV deficiency based on a high suspicion of mitochondrial disease given the clinical presentation and borderline findings on electron transport chain studies. There is no evidence that heterozygous variants associated with spastic paraplegia are linked to mitochondrial dysfunction.
Sources: NHS GMSCreated: 22 Mar 2020, 7:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myoclonus, intractable, neonatal MIM#617235
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Red
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Myoclonus, intractable, neonatal MIM#617235
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif5a has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif5a has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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 Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 27463701; 27414745 Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal MIM#617235 Mode of pathogenicity for gene: KIF5A was set to Other Review for gene: KIF5A was set to AMBER