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Fetal anomalies

Gene: NEK9

Amber List (moderate evidence)

NEK9 (NIMA related kinase 9)
EnsemblGeneIds (GRCh38): ENSG00000119638
EnsemblGeneIds (GRCh37): ENSG00000119638
OMIM: 609798, Gene2Phenotype
NEK9 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable.
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
Phenotypes
  • Lethal congenital contracture syndrome 10 617022
OMIM
609798
Clinvar variants
Variants in NEK9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: NEK9 was added gene: NEK9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK9 were set to 26908619 Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10 617022