1. Genes and Genomic Entities
  2. NPHP1

NPHP1

nephrocystin 1
OMIM: 607100, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Red NPHP1 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
Red NPHP1 in Neonatal cholestasis

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

review Not set
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 1.24

review Not set
Sources
  • Emory Genetics Laboratory
No list NPHP1 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
  • Nephronophthisis 1, juvenile (256100)
  • Joubert syndrome 4 (609583)
Tags
  • curated_removed
Green NPHP1 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
    • Joubert syndrome 4 MIM 609583
    • Senior-Loken syndrome-1 MIM 266900
    • Nephronopthisis 1, juvenile MIM 256100
    Green NPHP1 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 NPHP1 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
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • 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 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Joubert syndrome, Nephronophthisis
    Red NPHP1 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red NPHP1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Green NPHP1 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
    • SENIOR-LOKEN SYNDROME TYPE 1
    • NEPHRONOPHTHISIS TYPE 1
    • JOUBERT SYNDROME TYPE 4
    Green NPHP1 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
    • JOUBERT SYNDROME TYPE 4 609583
    • NEPHRONOPHTHISIS TYPE 1 256100
    • SENIOR-LOKEN SYNDROME TYPE 1 266900
    Green NPHP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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 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 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 NPHP1 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
    • 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 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    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


    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
    • 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 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
    • Joubert syndrome 4
    • Senior-Loken syndrome
    • 256100 Senior-Loken syndrome-1, 266900
    • 609583 Nephronophthisis 1, juvenile
    • Nephronophthisis
    Green NPHP1 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
    • 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, 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
    • Joubert syndrome 4
    • 609583 Nephronophthisis 1, juvenile
    • Senior-Loken syndrome
    • 256100 Senior-Loken syndrome-1, 266900
    • Nephronophthisis