Genomics England
GMS Panels
Panels
Genes and Entities

EGR2

early growth response 2
OMIM: 129010
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth, Type 1, Charcot Marie Tooth disease, type 1D, 607678