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 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 9 614255
R-numbers: R78
Signed-off version 1.36
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 1.27
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 2.18
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental Retardation, Dominant, Spastic paraplegia 30, autosomal recessive, 610357Neuropathy, hereditary sensory, type IIC, 614213Mental retardation, autosomal dominant 9, 614255, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9