NPHP3

nephrocystin 3
OMIM: 608002, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green NPHP3 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.122

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

    Green NPHP3 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.430

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NPHP3 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.0

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

    Green NPHP3 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.62

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 3, MIM# 604387
    • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
    • Meckel syndrome 7, MIM# 267010

    Amber NPHP3 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Meckel syndrome 7, MIM# 267010

    Green NPHP3 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Meckel syndrome 7, MIM# 267010
    • Nephronophthisis 3, MIM# 604387
    • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

    Green NPHP3 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.281

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NPHP3 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.26

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Nephronophthisis 3, MIM# 604387
    • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

    Green NPHP3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Meckel syndrome 7, MIM# 267010

    Red NPHP3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Meckel syndrome 7 267010

    Green NPHP3 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green NPHP3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Meckel syndrome 7, 267010 (3)

    Green NPHP3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Nephronophthisis

    Green NPHP3 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Meckel syndrome 7, MIM# 267010
    • Nephronophthisis 3, MIM# 604387
    • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

    Green NPHP3 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 1 MIM#208540
    • Meckel syndrome 7 MIM#267010
    • Nephronophthisis 3 MIM#604387

    Red NPHP3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

    Green NPHP3 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Meckel syndrome 7, 267010 (3)