MC2R

melanocortin 2 receptor
OMIM: 607397, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MC2R in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Tags
  • treatable

Green MC2R in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)

Green MC2R in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)

Green MC2R in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Tags
  • treatable
  • endocrine