Genomics England
GMS Panels
Panels
Genes and Entities

NEK1

NIMA related kinase 1
OMIM: 604588
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892, amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SRTD6
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT RIB-POLYDACTYLY SYNDORME, TYPE II, SHORT RIB-POLYDACTYLY SYNDROME, TYPE II, Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short rib thoracic dysplasia 6 with or without polydactyly - 263520, SRPS type 2 (Majewski), Short Rib Polydactyly Syndrome, Short rib-polydactyly syndrome, type IIA, 263520