KIF5C

kinesin family member 5C
OMIM: 604593
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 2, 615282
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282, Complex cortical dysplasia with other brain malformations 2, MONDO:0014116
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CDCBM2
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical dysplasia, complex, with other brain malformations 2