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  2. Growth failure
  3. MRAS
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Growth failure

Gene: MRAS

Green List (high evidence)
MRAS (muscle RAS oncogene homolog)
EnsemblGeneIds (GRCh38): ENSG00000158186
EnsemblGeneIds (GRCh37): ENSG00000158186
OMIM: 608435, Gene2Phenotype
MRAS is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 unrelated individuals reported.
Sources: Expert Review
Created: 14 Aug 2021, 5:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome 11, MIM#618499

Publications

Created: 14 Aug 2021, 5:23 a.m.

Panel version: 0.91

Details

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

History Filter Activity

14 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Aug 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: MRAS was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

14 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRAS was added gene: MRAS was added to Growth failure in early childhood. Sources: Expert Review 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 11, MIM#618499 Review for gene: MRAS was set to GREEN