Additional findings_Paediatric
Gene: NEK8

NEK8 (NIMA related kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with a multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus.
Created: 4 Jul 2021, 9:41 a.m. | Last Modified: 4 Jul 2021, 9:41 a.m.

Panel Version: 0.244

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174

Publications

Created: 4 Jul 2021, 9:41 a.m.
Last Modified: 4 Jul 2021, 9:41 a.m.
Panel version: 0.244

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene

Phenotypes

Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
MONDO:0014174

OMIM

609799

Clinvar variants

Variants in NEK8

Penetrance

None

Publications

Panels with this gene