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Gene: NEK8

Green List (high evidence)

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene-disease association: strong and supported by protein interactions, expression studies, functional alterations in patient and non-patient cells, non-human model organisms, cell culture models, and rescue of both a model organisms and cell culture models.

RHPD2 is an autosomal recessive 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. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable
Can be severe presentation. Onset is congenital.
Null variants, splicing variants and missense variants in NEK8 have been reported.
Created: 7 Feb 2025, 11:25 a.m. | Last Modified: 7 Feb 2025, 11:25 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal-hepatic-pancreatic dysplasia 2 MIM#615415

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
OMIM
609799
Clinvar variants
Variants in NEK8
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEK8 was added gene: NEK8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive