Genomics England
GMS Panels
Panels
Genes and Entities

NEK9

NIMA related kinase 9
OMIM: 609798
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262, Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660, Lethal congenital contracture syndrome 10, OMIM:617022, NEK9-related lethal skeletal dysplasia, MONDO:0014870
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262, Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660, Lethal congenital contracture syndrome 10, OMIM:617022, NEK9-related lethal skeletal dysplasia, MONDO:0014870
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.49
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nevus comedonicus, somatic, OMIM:617025