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RASopathies

Gene: MRAS

Green List (high evidence)
MRAS (muscle RAS oncogene homolog)
EnsemblGeneIds (GRCh38): ENSG00000158186
EnsemblGeneIds (GRCh37): ENSG00000158186
OMIM: 608435, Gene2Phenotype
MRAS is in 5 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

Created: 4 Aug 2020, 4:05 p.m.
Last Modified: 4 Aug 2020, 4:06 p.m.
Panel version: 1.55

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

Created: 3 Jul 2020, 10:34 a.m.
Last Modified: 3 Jul 2020, 10:39 a.m.
Panel version: 1.55

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