NEK1

NIMA related kinase 1
OMIM: 604588
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520
R-numbers: R21
Signed-off version 1.92
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
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
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