Genomics England

KIF1A

kinesin family member 1A

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 30, autosomal dominant, OMIM:610357, Spastic paraplegia 30, autosomal recessive, OMIM:610357, NESCAV syndrome, OMIM:614255
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spastic paraplegia 30, autosomal dominant, OMIM:610357, Spastic paraplegia 30, autosomal recessive, OMIM:610357, NESCAV syndrome, OMIM:614255
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 30, autosomal dominant, OMIM:610357, Spastic paraplegia 30, autosomal recessive, OMIM:610357, NESCAV syndrome, OMIM:614255
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213, NESCAV SYNDROME, 614255
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes NESCAV syndrome, OMIM:614255
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213, NESCAV SYNDROME, 614255
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Neuropathy, hereditary sensory, type IIC, OMIM:614213, Spastic paraplegia 30, autosomal dominant, OMIM:610357, Spastic paraplegia 30, autosomal recessive, OMIM:610357, NESCAV syndrome, OMIM:614255
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes NESCAV syndrome, OMIM:614255, Spastic paraplegia 30, autosomal dominant, OMIM:610357