Genomics England

KIF5A

kinesin family member 5A

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia 10, autosomal dominant, OMIM:604187
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spastic paraplegia 10, autosomal dominant, 604187
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes KIF5A-associated severe neonatal myoclonus, OMIM:617235
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hereditary Neuropathies, Spastic paraplegia 10, autosomal dominant
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Myoclonus, intractable, neonatal, 617235, intellectual disability
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myoclonus, intractable, neonatal, OMIM:617235