KIF5A

kinesin family member 5A
OMIM: 602821
PanelMode of inheritanceDetails
5 panels
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary Neuropathies, Spastic paraplegia 10, autosomal dominant
R-numbers: R60
Signed-off version 1.27
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
R-numbers: R61
Signed-off version 2.18
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 10, autosomal dominant, 604187
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, imprinted status unknown
Phenotypes
Myoclonus, intractable, neonatal, 617235, intellectual disability
R-numbers: R58
Signed-off version 2.178
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 10, autosomal dominant, OMIM:604187