MC2R

melanocortin 2 receptor
OMIM: 607397, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MC2R in Mendeliome


Version 1.4216

1 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 0.111

0 reviews 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 2.15

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200

Green MC2R in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.147

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

Green MC2R in Adrenal insufficiency

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 0.57

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