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BabyScreen+ newborn screening

Gene: MRAP

Green List (high evidence)

MRAP (melanocortin 2 receptor accessory protein)
EnsemblGeneIds (GRCh38): ENSG00000170262
EnsemblGeneIds (GRCh37): ENSG00000170262
OMIM: 609196, Gene2Phenotype
MRAP is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucocorticoid deficiency 2, MIM# 607398

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes, serum cortisol and adrenocorticotropic hormone (ACTH) levels

Treatment: hydrocortisone
Created: 4 Oct 2022, 4:59 a.m. | Last Modified: 4 Oct 2022, 4:59 a.m.
Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucocorticoid deficiency 2

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Glucocorticoid deficiency 2, MIM# 607398
Tags
treatable endocrine
OMIM
609196
Clinvar variants
Variants in MRAP
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag endocrine tag was added to gene: MRAP.

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrap has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MRAP.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRAP was added gene: MRAP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398