NPHS2

NPHS2, podocin
OMIM: 604766, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green NPHS2 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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 2 600995
Red NPHS2 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
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEPHROTIC SYNDROME, TYPE 2
Green NPHS2 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
    • NEPHROTIC SYNDROME, TYPE 2 600995
    Red NPHS2 in Haematuria


    Level 2: Renal
    Version 2.17
    Latest signed off version: v2.15 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Hematuria, Benign Familial
    • Alport Syndrome, X-Linked
    • Alport Syndrome, Autosomal Recessive
    • Alport Syndrome, Autosomal Dominant
    • Nephrotic Syndrome, Type 2
    • ?Modifier of COL4A variants
    Red NPHS2 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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Nephrotic syndrome, type 2, 600995
    Green NPHS2 in Proteinuric renal disease


    Level 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (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
    • Eligibility statement prior genetic testing
    Phenotypes
    • Nephrotic syndrome, type 2 #600995