KIF5A

kinesin family member 5A
OMIM: 602821
PanelMode of inheritanceDetails
7 panels
R-numbers: R60
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
R-numbers: R58
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 10, autosomal dominant, OMIM:604187
R-numbers: R61
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 10, autosomal dominant, 604187
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KIF5A-associated severe neonatal myoclonus, OMIM:617235
R-numbers: R78
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary Neuropathies, Spastic paraplegia 10, autosomal dominant
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, imprinted status unknown
Phenotypes
Myoclonus, intractable, neonatal, 617235, intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myoclonus, intractable, neonatal, OMIM:617235