ERBB3

erb-b2 receptor tyrosine kinase 3
OMIM: 190151, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Amber ERBB3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contractural syndrome 2, MIM# 607598

    Green ERBB3 in Hirschsprung disease


    Level 2: Gastroenterological disorders
    Version 0.25

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180
    • Complex neurocristinopathy

    Green ERBB3 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contractural syndrome 2, MIM# 607598
    • Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180
    • Hirschsprung disease
    • Arthrogryposis
    • Complex neurocristinopathy

    Amber ERBB3 in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lethal congenital contractural syndrome 2, MIM# 607598

    Green ERBB3 in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180
    • Complex neurocristinopathy

    Amber ERBB3 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Mackenzie's Mission
    Phenotypes
    • Lethal congenital contractural syndrome 2, 607598 (3)

    Red ERBB3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Lethal congenital contractural syndrome 2

    Green ERBB3 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lethal congenital contractural syndrome 2, MIM# 607598
    • Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623

    Amber ERBB3 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Amber
    Phenotypes
    • Lethal congenital contractural syndrome 2, 607598 (3)

    Red ERBB3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Lethal congenital contractural syndrome 2