KIF1A

kinesin family member 1A
OMIM: 601255
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213, NESCAV SYNDROME, 614255
R-numbers: R21, R412
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213, NESCAV SYNDROME, 614255
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NESCAV syndrome, OMIM:614255
R-numbers: R78
Signed-off version 2.1
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
R-numbers: R60
Signed-off version 2.1
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
R-numbers: R61
Signed-off version 3.1
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NESCAV syndrome, OMIM:614255, Spastic paraplegia 30, autosomal dominant, OMIM:610357