NEK8 gene related symptoms and diseases
All the information presented here about the NEK8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NEK8 gene
Symptoms // Phenotype | % Cases |
---|---|
Renal insufficiency | Rare - less than 30% cases |
Cardiomegaly | Rare - less than 30% cases |
Heterotaxy | Rare - less than 30% cases |
Cystic renal dysplasia | Rare - less than 30% cases |
Agenesis of cerebellar vermis | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with NEK8 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Asplenia
- Truncus arteriosus
- Enlarged kidney
- Femoral bowing
- Situs inversus totalis
- Aortic valve stenosis
- Hepatic fibrosis
- Cholestasis
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NEK8 gene
Here you will find a list of rare diseases related to the NEK8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHRONOPHTHISIS 9; NPHP9
Description
Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by Otto et al., 2008).For a general description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (OMIM ).
Most common symptoms of NEPHRONOPHTHISIS 9; NPHP9
- Renal insufficiency
- Abnormality of the kidney
- Stage 5 chronic kidney disease
- Chronic kidney disease
- Nephronophthisis
More info about NEPHRONOPHTHISIS 9; NPHP9
SOURCES: OMIM
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2
Description
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 (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).
Most common symptoms of RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2
- Hepatomegaly
- Talipes equinovarus
- Hypertrophic cardiomyopathy
- Pulmonic stenosis
- Narrow chest
More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2
SOURCES: OMIM
RENAL-HEPATIC-PANCREATIC DYSPLASIA
Alternate names
RENAL-HEPATIC-PANCREATIC DYSPLASIA Is also known as renohepaticopancreatic dysplasia, ivemark ii syndrome
Description
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.
More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA
SOURCES: ORPHANET
INFANTILE NEPHRONOPHTHISIS
Alternate names
INFANTILE NEPHRONOPHTHISIS Is also known as autosomal recessive infantile nephronophthisis, autosomal recessive infantile nphp
More info about INFANTILE NEPHRONOPHTHISIS
SOURCES: ORPHANET
Search interest in NEK8
Potential gene panels for NEK8 gene
Ciliopathies Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panelNephronophthisis Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Nephronophthisis Deletion/Duplication Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelRenal Cystic Disorders Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panelNephronophthisis Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Nephronophthisis Sequencing Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelNEK8. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NEK8 gene.
More info about this panelNephronophthisis 9 (sequence analysis of NEK8 gene) Panel
By CGC Genetics
This panel specifically test the NEK8 gene.
More info about this panelNephronophthisis (NGS panel for 19 genes) Panel
By CGC Genetics Nephronophthisis (NGS panel for 19 genes) that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelCiliopathies (NGS panel for 90 genes) Panel
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panelNephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelNephronophthisis via NEK8/NPHP9 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the NEK8 gene.
More info about this panelCiliopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panelHereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panelNephronophthisis and related disorders NGS panel Panel
By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panelNephronophthisis and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panelNephronophthisis and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelNephronophthisis panel Panel
By Centogene AG - the Rare Disease Company Nephronophthisis panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS NPHP4 ANKS6 IQCB1 CEP290 RPGRIP1L CEP164
More info about this panelNephronophthisis 9 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NEK8 gene.
More info about this panelNephronophthisis Panel Panel
By CeGaT GmbH Nephronophthisis Panel that also includes the following genes: NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 SLC41A1 TTC21B ANKS6
More info about this panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panelInvitae Nephronophthisis Panel Panel
By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1
More info about this panelInvitae Ciliopathies Panel Panel
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panelNephronophthisis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Nephronophthisis that also includes the following genes: SDCCAG8 NEK8 INVS NPHP4 AHI1 ANKS6 IQCB1 CEP290 RPGRIP1L GLIS2
More info about this panelCiliopathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panelCiliopathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panelCiliopathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panelNephronophthisis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nephronophthisis NGS Panel that also includes the following genes: SDCCAG8 NEK8 INVS NPHP4 IQCB1 CEP290 RPGRIP1L GLIS2 NPHP1 NPHP3
More info about this panelCongenital Hepatic Fibrosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Congenital Hepatic Fibrosis NGS Panel that also includes the following genes: ARL6 NEK8 TRIM32 INVS BBS7 NPHP4 EVC2 TTC8 AHI1 ARL13B
More info about this panelNEK8 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NEK8 gene.
More info about this panelKidneySeq - 264 Genes Panel
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panelNephronophthisis Panel Panel
By Blueprint Genetics Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelCystic Kidney Disease Panel Panel
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panelCiliopathy Panel Panel
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panelCongenital Hepatic Fibrosis Panel Panel
By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7
More info about this panelNephronophthisis type 9 Panel
By Bioarray
This panel specifically test the NEK8 gene.
More info about this panelCystic Disease and Nephronopthisis Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Cystic Disease and Nephronopthisis Gene Set that also includes the following genes: SIX5 HNF1B UMOD NEK8 INVS CRB2 NPHP4 BICC1 AHI1 TTC21B
More info about this panelNEPHRONOPHTHISIS TYPE 9 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the NEK8 gene.
More info about this panelNEPHRONOPHTHISIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEPHRONOPHTHISIS NGS PANEL that also includes the following genes: SDCCAG8 ARL6 NEK8 ZNF423 INVS CEP83 WDR19 NPHP4 TTC21B ANKS6
More info about this panelNephronophthisis Type 9, Sequencing NEK8 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the NEK8 gene.
More info about this panelNephronophthisis , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Nephronophthisis , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SDCCAG8 NEK8 INVS NPHP4 AHI1 IQCB1 CEP290 RPGRIP1L GLIS2 NPHP1
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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