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Fetal anomalies

Gene: NEK8

Amber List (moderate evidence)

NEK8 (NIMA related kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 16 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for NEPHRONOPHTHISIS 9 and Probable for RENAL-HEPATIC-PANCREATIC DYSPLASIA 2.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, and listed as All missense/in frame for NEPHRONOPHTHISIS 9.
Created: 8 Nov 2018, 4:45 p.m.

History Filter Activity

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 for gene: NEK8

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: NEK8 was added gene: NEK8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9