NPHP1

Red NPHP1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Red NPHP1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24

Sources

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

Phenotypes

• N/A

Red NPHP1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.18

Sources

• Emory Genetics Laboratory

No list NPHP1 in Ductal plate malformation

Version 1.19

Sources

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

Phenotypes

• Nephronophthisis 1, juvenile (256100)
• Joubert syndrome 4 (609583)

Tags

• curated_removed

Green NPHP1 in Tubulointerstitial kidney disease

Version 1.20
Latest signed off version: v1.3 (4 Mar 2020)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Joubert syndrome 4 MIM 609583
• Senior-Loken syndrome-1 MIM 266900
• Nephronopthisis 1, juvenile MIM 256100

Green NPHP1 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.45
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Green NPHP1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.113

Component of the following Super Panels:

Sources

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

Phenotypes

• Joubert syndrome 4 609583
• Nephronophthisis 1, juvenile 256100
• Senior-Loken syndrome-1 266900

Red NPHP1 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46

Sources

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

Phenotypes

• Joubert syndrome, Nephronophthisis

Red NPHP1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Red NPHP1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.207
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory

Green NPHP1 in Unexplained paediatric onset end-stage renal disease

Version 1.37
Latest signed off version: v1.2 (4 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Joubert syndrome 4 609583
• Ciliopathy genes associated with cystic kidney disease
• Senior-Loken syndrome-1 266900
• Nephronophthisis 1, juvenile 256100

Green NPHP1 in Fetal anomalies

Version 1.873
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• SENIOR-LOKEN SYNDROME TYPE 1
• NEPHRONOPHTHISIS TYPE 1
• JOUBERT SYNDROME TYPE 4

Green NPHP1 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• JOUBERT SYNDROME TYPE 4 609583
• NEPHRONOPHTHISIS TYPE 1 256100
• SENIOR-LOKEN SYNDROME TYPE 1 266900

Green NPHP1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1623
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583
• SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1)

Green NPHP1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.276
Latest signed off version: v2.195 (5 Aug 2021)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders

Red NPHP1 in Structural eye disease

Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• 609583
• 266900
• Joubert syndrome, Nephronophthisis
• Joubert syndrome 4
• Senior-Loken syndrome-1
• 256100
• Nephronophthisis 1, juvenile

Green NPHP1 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.160

Sources

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

Phenotypes

• Nephronophthisis
• Joubert syndrome 4
• 609583 Nephronophthisis 1, juvenile
• 256100 Senior-Loken syndrome-1, 266900
• Senior-Loken syndrome

Green NPHP1 in Ophthalmological ciliopathies

Version 1.30
Latest signed off version: v1.3 (19 Feb 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• Joubert syndrome 4
• Senior-Loken syndrome
• 256100 Senior-Loken syndrome-1, 266900
• 609583 Nephronophthisis 1, juvenile
• Nephronophthisis

Green NPHP1 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.31
Latest signed off version: v1.5 (4 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Joubert syndrome 4
• Senior-Loken syndrome
• 256100 Senior-Loken syndrome-1, 266900
• 609583 Nephronophthisis 1, juvenile
• Nephronophthisis

Green NPHP1 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.64
Latest signed off version: v1.2 (4 Mar 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• Joubert syndrome 4
• Senior-Loken syndrome
• 256100 Senior-Loken syndrome-1, 266900
• 609583 Nephronophthisis 1, juvenile
• Nephronophthisis

Red NPHP1 in Childhood onset dystonia or chorea or related movement disorder

Version 1.237
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• Joubert syndrome 4
• 609583 Nephronophthisis 1, juvenile
• Senior-Loken syndrome
• 256100 Senior-Loken syndrome-1, 266900
• Nephronophthisis

Green NPHP1 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Nephronophthisis 1, juvenile, 256100
• Senior-Loken syndrome-1, 266900
• Joubert syndrome 4, 609583