NPHP4

Red NPHP4 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Red NPHP4 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Sources

• Expert Review Red
• Victorian Clinical Genetics Services
• Emory Genetics Laboratory

Phenotypes

• Nephronophthisis 4 606966
• Senior-Loken syndrome 4 606996

Red NPHP4 in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory

No list NPHP4 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 4 (606966)

Tags

• curated_removed

Green NPHP4 in Tubulointerstitial kidney disease

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

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Senior-Loken syndrome 4 MIM 606996
• Nephronopthisis 4 MIM 606966

Green NPHP4 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 Green
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Green NPHP4 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 Green
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Expert

Phenotypes

• Nephronophthisis 4 606966
• Senior-Loken syndrome 4 606996

Red NPHP4 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Amber NPHP4 in Laterality disorders and isomerism

Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• NHS GMS

Red NPHP4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory

Green NPHP4 in Unexplained young onset end-stage renal disease

Version 3.42
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Senior-Loken syndrome 4 606996
• Ciliopathy genes associated with cystic kidney disease
• Nephronophthisis 4 606966

Green NPHP4 in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• NEPHRONOPHTHISIS TYPE 4

Green NPHP4 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• NEPHRONOPHTHISIS TYPE 4 606966

Red NPHP4 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Nephronophthisis 4, 606966
• Senior-Loken syndrome 4, 606996

Green NPHP4 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders

Red NPHP4 in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Nephronophthisis 4, 606966
• Senior-Loken syndrome, 606996
• Eye Disorders

Green NPHP4 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172

Sources

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

Phenotypes

• Nephronophthisis 4, 606966
• Senior-Loken syndrome 4, 606996
• Nephronophthisis
• Senior-Loken syndrome

Red NPHP4 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS

Phenotypes

• Nephronophthisis 4 #606966

Green NPHP4 in Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Sources

• Expert Review Green
• Expert review green
• Literature

Phenotypes

• Nephropathy of unknown origin
• MIM 606966
• Nephronophthisis 4

Green NPHP4 in Ophthalmological ciliopathies

Version 3.7
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

Phenotypes

• Senior-Loken syndrome
• Nephronophthisis
• Senior-Loken syndrome 4, 606996
• Nephronophthisis 4, 606966

Green NPHP4 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

Phenotypes

• Senior-Loken syndrome
• Nephronophthisis
• Senior-Loken syndrome 4, 606996
• Nephronophthisis 4, 606966

Red NPHP4 in Childhood onset dystonia, chorea or related movement disorder

Version 3.78
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green NPHP4 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Nephronophthisis 4, 606966
• Senior-Loken syndrome 4, 606996