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Fetal anomalies

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

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, 9:42 a.m. | Last Modified: 4 Jul 2021, 9:42 a.m.
Panel Version: 0.181

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174
  • Renal-hepatic-pancreatic dysplasia 2, OMIM:615415
  • Nephronophthisis 9, OMIM:613824
  • Nephronophthisis 9, MONDO:0013444
OMIM
609799
Clinvar variants
Variants in NEK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nek8 has been classified as Green List (High Evidence).

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444 to Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nek8 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEK8 was added gene: NEK8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 26697755; 18199800; 26967905; 26862157; 23418306 Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444