Genomics England
GMS Panels
Panels
Genes and Entities

MC2R

melanocortin 2 receptor
OMIM: 607397
PanelMode of inheritanceDetails
2 panels
Green
in Congenital adrenal hypoplasia
R-numbers: R150
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia, Glucocorticoid deficiency, due to ACTH unresponsiveness 202200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUCOCORTICOID DEFICIENCY 1 202200