PanelApp (staging)
  1. Genes and Genomic Entities
  2. NPHP4

NPHP4

nephrocystin 4
OMIM: 607215, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green NPHP4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red NPHP4 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 4, MIM# 606966
    • Senior-Loken syndrome 4, MIM# 606996

    Green NPHP4 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.62

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 4, MIM# 606966
    • Senior-Loken syndrome 4, MIM# 606996

    Amber NPHP4 in Heterotaxy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.36

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Pleiotropic Heart Malformations (PMID: 22550138)

    Green NPHP4 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 4, MIM# 606966
    • Senior-Loken syndrome 4, MIM# 606996

    Green NPHP4 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

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Nephronophthisis 4, MIM# 606966
    • Senior-Loken syndrome 4, MIM# 606996

    Red NPHP4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services

    Green NPHP4 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

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

    Green NPHP4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Senior-Loken syndrome 4, 606996 (3)

    Green NPHP4 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Green NPHP4 in Fetal anomalies


    Version 1.313

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Nephronophthisis 4, MIM# 606966
    • Senior-Loken syndrome 4, MIM# 606996

    Green NPHP4 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nephronophthisis 4 MONDO:0011752
    • Nephronophthisis 4 MIM#606966
    • Senior-Loken syndrome 4 MIM#606996

    Red NPHP4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996