Genomics England

KIF5A

kinesin family member 5A

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 8.30	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hereditary Neuropathies, Spastic paraplegia 10, autosomal dominant
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spastic paraplegia 10, autosomal dominant, 604187
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Myoclonus, intractable, neonatal, 617235, intellectual disability
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spastic paraplegia 10, autosomal dominant, OMIM:604187
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myoclonus, intractable, neonatal, OMIM:617235