KIF1A

kinesin family member 1A
OMIM: 601255
PanelMode of inheritanceDetails
8 panels
R-numbers: R60
Signed-off version 4.4
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
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
R-numbers: R61
Signed-off version 5.3
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 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213, NESCAV SYNDROME, 614255
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NESCAV syndrome, OMIM:614255
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
R-numbers: R78
Signed-off version 4.11
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NESCAV syndrome, OMIM:614255, Spastic paraplegia 30, autosomal dominant, OMIM:610357