Paediatric or syndromic cardiomyopathy
Gene: MRASEnsemblGeneIds (GRCh38): ENSG00000158186
EnsemblGeneIds (GRCh37): ENSG00000158186
OMIM: 608435, Gene2Phenotype
MRAS is in 5 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 10:56 a.m. | Last Modified: 3 Mar 2022, 10:56 a.m.
Panel Version: 1.63
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is also Green on the RASopathies panel (v 1.61).
Review copied from RASopathies panel:
"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.
Arina Puzriakova (Genomics England Curator), 4 Aug 2020"
Therefore, this gene will be promoted to Green status at the next major review.Created: 8 Sep 2020, 10:40 a.m. | Last Modified: 8 Sep 2020, 10:40 a.m.
Panel Version: 1.7
Zornitza Stark (Australian Genomics)
At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported.
Sources: Expert listCreated: 7 Aug 2020, 1:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome, MIM#618499
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
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
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: MRAS.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to MRAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MRAS were changed from Noonan syndrome, 618499 to Noonan syndrome 11, OMIM:618499; Noonan syndrome 11, MONDO:0032786
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mras has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: MRAS.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MRAS were changed from Noonan syndrome, MIM#618499 to Noonan syndrome, 618499
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Australian Genomics)gene: MRAS was added gene: MRAS was added to Cardiomyopathies - including childhood onset. 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; 31173466; 31108500; 31173466 Phenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499 Mode of pathogenicity for gene: MRAS was set to Other Review for gene: MRAS was set to GREEN gene: MRAS was marked as current diagnostic