MC2R

melanocortin 2 receptor
OMIM: 607397, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MC2R in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 5.6
Latest signed off version: v5.5 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ideopathic Primary Adrenal Failure
  • Congenital Adrenal Hypoplasia
  • Glucocorticoid deficiency, due to ACTH unresponsiveness 202200
Red MC2R in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GLUCOCORTICOID DEFICIENCY 1
Green MC2R in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GLUCOCORTICOID DEFICIENCY 1 202200
    Red MC2R in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200