ERBB3

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ERBB3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • ?Lethal congenital contractural syndrome 2 OMIM:607598
  • lethal congenital contracture syndrome 2 MONDO:0011868
Tags
  • founder-effect
Green ERBB3 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Hirschprung disease with intestinal pseudo-obstruction
    • LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598
    Red ERBB3 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    Phenotypes
    • Lethal congenital contractural syndrome 2, 607598
    • Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
    Red ERBB3 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Lethal congenital contractural syndrome 2, 607598
    • Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
    Green ERBB3 in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180