Congenital adrenal hypoplasia
Gene: MC2REnsemblGeneIds (GRCh38): ENSG00000185231
EnsemblGeneIds (GRCh37): ENSG00000185231
OMIM: 607397, Gene2Phenotype
MC2R is in 4 panels
3 reviews
Ivone Leong (Genomics England Curator)
As 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.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Robust association with relevant phenotype.Created: 28 Jun 2016, 1:26 p.m.
John Achermann (UCL Institute of Child Health)
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
Details
- Mode of Inheritance
- 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
- OMIM
- 607397
- Clinvar variants
- Variants in MC2R
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MC2R were set to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia;Glucocorticoid deficiency, due to ACTH unresponsiveness 202200
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for MC2R was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)MC2R was added to Congenital adrenal hypoplasiapanel. Sources: Expert list