Genomics England
GMS Panels
Panels
Genes and Entities

KIF5B

kinesin family member 5B
OMIM: 602809
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KIF5B-related disease
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
kyphomelic dysplasia, MONDO:0008881
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
osteogenesis imperfecta, MONDO:0019019
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
kyphomelic dysplasia, MONDO:0008881