Genomics England
GMS Panels
Panels
Genes and Entities

ERBB3

erb-b2 receptor tyrosine kinase 3
OMIM: 190151
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Lethal congenital contractural syndrome 2 OMIM:607598, lethal congenital contracture syndrome 2 MONDO:0011868
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hirschprung disease with intestinal pseudo-obstruction, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contractural syndrome 2, OMIM:607598
Green
in Paediatric pseudo-obstruction syndrome
R-numbers: R438
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180