Fetal anomalies
Gene: NEK8

NEK8 (NIMA related kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 13 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 3:24 p.m. | Last Modified: 1 Feb 2021, 3:24 p.m.

Panel Version: 1.478

Created: 1 Feb 2021, 3:24 p.m.
Last Modified: 1 Feb 2021, 3:24 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel
Created: 28 Jan 2021, 4:45 p.m. | Last Modified: 28 Jan 2021, 4:45 p.m.

Panel Version: 1.214

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NEPHRONOPHTHISIS 9; RENAL-HEPATIC-PANCREATIC DYSPLASIA 2

Publications

Created: 28 Jan 2021, 4:45 p.m.
Last Modified: 28 Jan 2021, 4:45 p.m.
Panel version: 1.214

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.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

?Nephronophthisis 9, OMIM:613824
Nephronophthisis 9, MONDO:0013444
Renal-hepatic-pancreatic dysplasia 2, OMIM:615415
Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174

OMIM

609799

Clinvar variants

Variants in NEK8

Penetrance

None

Publications

Panels with this gene