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Newborns main panel

Gene: MC2R

Green List (high evidence)
MC2R (melanocortin 2 receptor)
EnsemblGeneIds (GRCh38): ENSG00000185231
EnsemblGeneIds (GRCh37): ENSG00000185231
OMIM: 607397, Gene2Phenotype
MC2R is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MC2R familial glucocorticoid deficiency
OMIM
607397
Clinvar variants
Variants in MC2R
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MC2R were changed from Glucocorticoid deficiency, due to ACTH unresponsiveness to MC2R familial glucocorticoid deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness for gene: MC2R

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness for gene: MC2R

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MC2R. Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness for gene: MC2R Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MC2R. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness for gene: MC2R

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MC2R was added gene: MC2R was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal