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Newborns main panel

Gene: MRAP

Green List (high evidence)
MRAP (melanocortin 2 receptor accessory protein)
EnsemblGeneIds (GRCh38): ENSG00000170262
EnsemblGeneIds (GRCh37): ENSG00000170262
OMIM: 609196, Gene2Phenotype
MRAP is in 2 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
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein - 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
  • MRAP familial glucocorticoid deficiency type 2
OMIM
609196
Clinvar variants
Variants in MRAP
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: MRAP were changed from Glucocorticoid deficiency 2 to MRAP familial glucocorticoid deficiency type 2

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency 2 for gene: MRAP

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glucocorticoid deficiency 2 for gene: MRAP

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 MRAP. Added phenotypes Glucocorticoid deficiency 2 for gene: MRAP 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 MRAP. 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 2 for gene: MRAP

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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