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Intellectual disability syndromic and non-syndromic

Gene: MRAP

Red List (low evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID in this condition.
Created: 5 Dec 2019, 1:30 a.m. | Last Modified: 5 Dec 2019, 1:30 a.m.
Panel Version: 0.439

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucocorticoid deficiency 2; OMIM #607398

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Glucocorticoid deficiency 2
  • OMIM #607398
OMIM
609196
Clinvar variants
Variants in MRAP
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrap has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: mrap has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MRAP. Source Expert list was added to MRAP. Mode of inheritance for gene MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2; OMIM #607398

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRAP was added gene: MRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRAP was set to Unknown