RASopathies

Gene: MRAS

Green List (high evidence)

MRAS (muscle RAS oncogene homolog)
EnsemblGeneIds (GRCh38): ENSG00000158186
EnsemblGeneIds (GRCh37): ENSG00000158186
OMIM: 608435, Gene2Phenotype
MRAS is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Associated with Noonan syndrome in OMIM and G2P (confirmed).

PMID: 28289718 (2017) - In two unrelated patients with Noonan syndrome and cardiac hypertrophy, trio WES/targeted sequencing revealed de novo missense variants (c.68G>T, p.G23V and c.203C>T, p.T68I) in the MRAS gene. Functional studies of the p.Gly23Val variant showed the change yields a constitutively active form of MRAS.

PMID: 31173466 (2019) - One patient with a severe a Noonan syndrome phenotype, associated with a de novo MRAS variant (c.212A>G, p.Q71R). Functional studies were not performed.

PMID: 31108500 (2020) - Two unrelated patients with Noonan syndrome, including hypertrophic cardiomyopathy and dysmorphic features. Targeted sequencing revealed de novo activating MRAS variants (c.203C>T, p.T68I and c.67G>C, p.G23R). Functional studies demonstrated that the variants yields a constitutively active form of MRAS.
Created: 4 Aug 2020, 4:05 p.m. | Last Modified: 4 Aug 2020, 4:06 p.m.
Panel Version: 1.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Noonan syndrome 11, 618499

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated individuals reported with de novo variants in this gene initially. Rated as LIMITED by ClinGen in 2018. Note 4 further individuals reported since.
Sources: Expert list
Created: 3 Jul 2020, 10:34 a.m. | Last Modified: 3 Jul 2020, 10:39 a.m.
Panel Version: 1.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan syndrome 11, OMIM:618499
  • Noonan syndrome 11, MONDO:0032786
OMIM
608435
Clinvar variants
Variants in MRAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MRAS were changed from Noonan syndrome 11, 618499 to Noonan syndrome 11, OMIM:618499; Noonan syndrome 11, MONDO:0032786

8 Oct 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MRAS were set to 28289718

8 Oct 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MRAS were changed from Noonan syndrome to Noonan syndrome 11, 618499

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

3 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MRAS was added gene: MRAS was added to RASopathies. Sources: Expert list Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MRAS were set to 28289718 Phenotypes for gene: MRAS were set to Noonan syndrome Review for gene: MRAS was set to AMBER