NPHP3

Red NPHP3 in Familial Neural Tube Defects

Version 1.10

Sources

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

Phenotypes

• Meckel Syndrome

Red NPHP3 in Glaucoma (developmental)

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

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Amber NPHP3 in Neonatal cholestasis

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

Sources

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

Phenotypes

• Renal-hepatic-pancreatic dysplasia 208540

Red NPHP3 in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory

No list NPHP3 in Limb disorders

Version 2.79
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly

Tags

• curated_removed

Amber NPHP3 in Cholestasis

Version 1.110
Latest signed off version: v1.21 (20 Aug 2020)

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Renal-hepatic-pancreatic dysplasia 1, 208540

No list NPHP3 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

• Renal-hepatic-pancreatic dysplasia 1 (208540)
• Nephronophthisis 3 (604387)
• Meckel syndrome 7 (267010)

Tags

• curated_removed

Green NPHP3 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

• Renal-hepatic-pancreatic dysplasia 1, MIM 208540
• Meckel syndrome 7, MIM 267010
• Nephronopthisis 3 MIM 604387

Green NPHP3 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.53
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 NPHP3 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
• Emory Genetics Laboratory
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Expert

Phenotypes

• Nephronophthisis 3, 604387
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Meckel syndrome 7, 267010

Red NPHP3 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Red NPHP3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• Meckel syndrome 7 267010

Green NPHP3 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.169

Component of the following Super Panels:

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Nephronophthisis 3, 604387
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Meckel syndrome 7, 267010
• Renal-Hepatic-Pancreatic Dysplasia

Green NPHP3 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
• Expert Review Green

Phenotypes

• Meckel syndrome 7, 267010
• Renal-Hepatic-Pancreatic Dysplasia
• Ciliopathy genes associated with cystic kidney disease
• Nephronophthisis 3, 604387
• Renal-hepatic-pancreatic dysplasia 1, 208540

Green NPHP3 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MECKEL SYNDROME TYPE 7
• RENAL-HEPATIC-PANCREATIC DYSPLASIA
• NEPHRONOPHTHISIS TYPE 3

Green NPHP3 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

• NEPHRONOPHTHISIS TYPE 3 604387
• RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540
• MECKEL SYNDROME TYPE 7 267010

Amber NPHP3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Victorian Clinical Genetics Services
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Nephronophthisis 3, 604387
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Meckel syndrome 7, 267010

Green NPHP3 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders

Red NPHP3 in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• 604387
• Eye Disorders
• Nephronophthisis 3
• Meckel syndrome 7
• Renal-hepatic-pancreatic dysplasia 1
• 267010
• 208540

Green NPHP3 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
• Orphanet
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Meckel syndrome 7, 267010
• Nephronophthisis 3, 604387
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Nephronophthisis
• Renal-hepatic-pancreatic dysplasia
• Senior-Loken syndrome

Green NPHP3 in Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Sources

• Expert Review Green
• Expert review green
• Literature

Phenotypes

• MIM 604387
• Nephronophthisis 3
• Nephropathy of unknown origin
• Glomerulopathy

Green NPHP3 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
• Emory Genetics Laboratory

Phenotypes

• Renal-hepatic-pancreatic dysplasia
• Senior-Loken syndrome
• Nephronophthisis 3, 604387
• Meckel syndrome 7, 267010
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Nephronophthisis

Green NPHP3 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

• Renal-hepatic-pancreatic dysplasia
• Senior-Loken syndrome
• Nephronophthisis 3, 604387
• Meckel syndrome 7, 267010
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Nephronophthisis

Green NPHP3 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
• Emory Genetics Laboratory

Phenotypes

• Renal-hepatic-pancreatic dysplasia
• Senior-Loken syndrome
• Nephronophthisis 3, 604387
• Meckel syndrome 7, 267010
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Nephronophthisis

Red NPHP3 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• Nephronophthisis 3, 604387
• Senior-Loken syndrome
• Renal-hepatic-pancreatic dysplasia 1, 208540
• Nephronophthisis
• Meckel syndrome 7, 267010
• Renal-hepatic-pancreatic dysplasia

Green NPHP3 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Meckel syndrome 7, 267010
• Nephronophthisis 3, 604387
• Renal-hepatic-pancreatic dysplasia 1, 208540