Mitochondrial disorders
Gene: KIF5AEnsemblGeneIds (GRCh38): ENSG00000155980
EnsemblGeneIds (GRCh37): ENSG00000155980
OMIM: 602821, Gene2Phenotype
KIF5A is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and not in Gen2Phen. Numerous variants identified in unrelated casesCreated: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myoclonus, intractable, neonatal 617235; Spastic paraplegia 10, autosomal dominant 604187; {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921
Publications
Details
- Sources
-
- Expert list
- Phenotypes
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- Myoclonus, intractable, neonatal 617235
- Spastic paraplegia 10, autosomal dominant 604187
- {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921
- OMIM
- 602821
- Clinvar variants
- Variants in KIF5A
- Penetrance
- None
- Publications
- Panels with this gene
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- Mitochondrial disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Amyotrophic lateral sclerosis/motor neuron disease
- Intellectual disability
- Adult onset leukodystrophy
- DDG2P
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KIF5A were changed from to Myoclonus, intractable, neonatal 617235; Spastic paraplegia 10, autosomal dominant 604187; {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KIF5A were set to
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: KIF5A was added gene: KIF5A was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: KIF5A was set to