PanelApp (staging)
  1. Genes and Genomic Entities
  2. NEK8

NEK8

NIMA related kinase 8
OMIM: 609799, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green NEK8 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
  • MONDO:0014174
  • Polycystic kidney disease 8, MIM# 620903

Green NEK8 in Mendeliome


Version 1.2302

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
  • MONDO:0014174
  • Polycystic kidney disease 8, MIM# 620903

Green NEK8 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.26

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
    • MONDO:0014174
    • Familial renal cystic disease MONDO:0019741, NEK8-related, dominant

    Green NEK8 in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 0.77

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Polycystic kidney disease 8, MIM# 620903

    Red NEK8 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services

    Green NEK8 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive

    Green NEK8 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
    • MONDO:0014174

    Green NEK8 in Fetal anomalies


    Version 1.313

    		1 review 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

    Green NEK8 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive

    Red NEK8 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • MONDO:0014174
    • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415