NEK8

Red NEK8 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

Sources

• Emory Genetics Laboratory

No list NEK8 in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• ?Nephronophthisis 9 (613824)
• Renal-hepatic-pancreatic dysplasia 2 (615415)

Tags

• curated_removed

Red NEK8 in Tubulointerstitial kidney disease

Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• NHS GMS

Phenotypes

• ?Nephronopthisis 9 MIM 613824

Amber NEK8 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert

Phenotypes

• polycystic kidney disease, MONDO:0020642
• ?Nephronophthisis 9, OMIM:613824

Tags

• Q4_23_promote_green

Red NEK8 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415

Red NEK8 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Red NEK8 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory

Red NEK8 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.176

Component of the following Super Panels:

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415

Green NEK8 in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415

Green NEK8 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• ?Nephronophthisis 9, OMIM:613824
• Nephronophthisis 9, MONDO:0013444
• Renal-hepatic-pancreatic dysplasia 2, OMIM:615415
• Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174

Green NEK8 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 615415
• NEPHRONOPHTHISIS 9 613824

Green NEK8 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Orphanet
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• ?Nephronophthisis 9, 613824
• ?Renal-hepatic-pancreatic dysplasia 2, 615415
• Nephronophthisis
• Renal-hepatic-pancreatic dysplasia

Green NEK8 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Illumina TruGenome Clinical Sequencing Services
• Expert Review Green
• Orphanet
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Emory Genetics Laboratory
• Expert Review Green

Phenotypes

• Renal-hepatic-pancreatic dysplasia
• ?Renal-hepatic-pancreatic dysplasia 2, 615415
• Nephronophthisis
• ?Nephronophthisis 9, 613824

Red NEK8 in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green NEK8 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• ?Nephronophthisis 9, 613824
• Renal-hepatic-pancreatic dysplasia 2, 615415