NPR2

natriuretic peptide receptor 2
OMIM: 108961, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red NPR2 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review Not set
Sources
  • Literature
Green NPR2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Acromesomelic dysplasia, Maroteaux type 602875
    • Short stature with nonspecific skeletal abnormalities 616255
    • Epiphyseal chondrodysplasia, Miura type 615923
    Green NPR2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.163
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
    No list NPR2 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green NPR2 in DDG2P


    Version 6.432
    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
    • ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875
    Red NPR2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.327
    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
    • Acromesomelic dysplasia, Maroteaux type, 602875
    • Epiphyseal chondrodysplasia, Miura type, 615923
    Green NPR2 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • NHS GMS
    Phenotypes
    • Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875