Congenital adrenal hypoplasia
Gene: MC2RAs discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 5 Feb 2019, 1:48 p.m.
Comment on list classification: Robust association with relevant phenotype.Created: 28 Jun 2016, 1:26 p.m.
Usually presents with cortisol insufficiency ("familial glucocorticoid deficiency"). Rarely can have salt loss or apparent hyponatraemia at presentation, leading to a diagnosis of congenital adrenal hypoplasia.Created: 7 Dec 2015, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
Phenotypes for MC2R were set to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia;Glucocorticoid deficiency, due to ACTH unresponsiveness 202200
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MC2R was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MC2R was added to Congenital adrenal hypoplasiapanel. Sources: Expert list