Renal Macrocystic Disease
Gene: NEK8EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 10 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 8, MIM# 620903
Lauren Rogers (Victorian Clinical Genetics Services)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial cystic renal disease MONDO:0019741
Publications
Chirag Patel (Genetic Health Queensland)
12 families with paediatric renal cystic disease (enlarged kidneys, kidney cysts, ESKF <20yrs)
-3 recurrent HTZ variants in NEK8 kinase domain (Arg45Trp, Ile150Met, Lys157Gln)
-suspected dominant negative effect
-patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8
(Note carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF)
Sources: OtherCreated: 7 Jul 2022, 1:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal cystic disease
Publications
- Unpublished ESHG presentation
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Polycystic kidney disease 8, MIM# 620903
- OMIM
- 609799
- Clinvar variants
- Variants in NEK8
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NEK8 were changed from Familial renal cystic disease MONDO:0019741, NEK8-related, dominant to Polycystic kidney disease 8, MIM# 620903
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: nek8 has been classified as Green List (High Evidence).
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: NEK8 were set to Unpublished ESHG presentation
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nek8 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NEK8 were changed from Renal cystic disease to Familial renal cystic disease MONDO:0019741, NEK8-related, dominant
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nek8 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nek8 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nek8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Chirag Patel (Genetic Health Queensland)gene: NEK8 was added gene: NEK8 was added to Renal Macrocystic Disease. Sources: Other Mode of inheritance for gene: NEK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEK8 were set to Unpublished ESHG presentation Phenotypes for gene: NEK8 were set to Renal cystic disease Mode of pathogenicity for gene: NEK8 was set to Other Review for gene: NEK8 was set to AMBER