1. Genes and Genomic Entities
  2. NPHP3

NPHP3

nephrocystin 3
OMIM: 608002, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red NPHP3 in Familial Neural Tube Defects


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
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 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Amber NPHP3 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
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 1.24

review Not set
Sources
  • Emory Genetics Laboratory
No list NPHP3 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    Tags
    • curated_removed
    Amber NPHP3 in Cholestasis


    Level 2: Gastrohepatology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 1, 208540
    No list NPHP3 in Ductal plate malformation


    Version 1.31

    		review BIALLELIC, autosomal or pseudoautosomal
    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


    Level 2: Renal
    Version 3.15
    Latest signed off version: v3.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 1.124

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • 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 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red NPHP3 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • 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 1.181

    		review BIALLELIC, autosomal or pseudoautosomal
    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 Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MECKEL SYNDROME TYPE 7
    • RENAL-HEPATIC-PANCREATIC DYSPLASIA
    • NEPHRONOPHTHISIS TYPE 3
    Green NPHP3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    Red NPHP3 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    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 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    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 Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    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 Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 1, OMIM:208540
    • Nephronophthisis 3, OMIM:604387
    • Meckel syndrome 7, OMIM:267010
    Red NPHP3 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    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