NRG1

neuregulin 1
OMIM: 142445, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber NRG1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hirschsprung disease, MONDO:0018309
  • Peripheral neuropathy MONDO:0005244

Red NRG1 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    • Expert list
    Phenotypes
    • Peripheral neuropathy MONDO:0005244

    Amber NRG1 in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Hirschsprung disease

    Red NRG1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Hirschsprung disease

    Red NRG1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Hirschsprung disease