RASopathies

Gene: HRAS

Green List (high evidence)

HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 32 panels

3 reviews

Mehdi Montazer (Mashhad University of Medical Sciences)

Green List (high evidence)

Gain-of-Function variants, including a newly described duplication: HRAS c.186_206dup p.(Glu62_Arg68dup) (reference: https://doi.org/10.1038/s41431-020-0662-4)
Created: 15 Nov 2020, 6:02 p.m. | Last Modified: 15 Nov 2020, 6:02 p.m.
Panel Version: 1.73

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypertrophic cardiomyopathy; Chiari 1 malformation; ectodermal findings

Publications

  • https://doi.org/10.1038/s41431-020-0662-4

Mode of pathogenicity
Other

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Comments from Reviewer: Gain of function variants cause Costello syndrome. Gain of function mutations in HRAS cause Costello syndrome. No strong association with Noonan syndrome or other 'RASopathies'. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 4:13 p.m. Gain of function variants cause Costello syndrome. No reported association with Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 22, 2016, 12:18 p.m.
Created: 5 Feb 2016, 12:11 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM. Not on imprinted gene list. Comment from Reviewer: Gain of function mutations in HRAS are known to cause Costello syndrome. The majority of these mutations are de novo in the proband. Inheritance from a somatic mosaic parent has been observed (PMID: 19206176). - Helen Savage (Congenica Ltd), Jan. 21, 2016, 10:49 a.m.
Created: 5 Feb 2016, 8:45 a.m.
Comment on list classification: Confirmed DD gene for Costello syndrome.
Created: 5 Feb 2016, 8:39 a.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations
Created: 1 Feb 2016, 10:44 a.m.
Gain of function mutations
Created: 1 Feb 2016, 10:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

History Filter Activity

24 Nov 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583

8 Oct 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HRAS were changed from Costello syndrome to Costello syndrome, 218040

13 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HRAS were set to PMID: 16170316; 16969868; 16443854; 21396583

5 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HRAS were set to PMID: 16170316; 16969868; 16443854; 21396583

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HRAS were set to PMID: 16170316; 16969868; 16443854

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HRAS were set to Costello syndrome

5 Feb 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

5 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene HRAS were set to Costello syndrome;Noonan Spectrum Disorders;Noonan syndrome;Noonan syndrome plus other features;Legius syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome

2 Feb 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

HRAS was added to RASopathiespanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,UKGTN

2 Feb 2016, Gel status: 3

clearsources

Ellen McDonagh (Genomics England Curator)

HRASAll sources for gene: HRAS were removed

2 Feb 2016, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

HRAS was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN

18 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HRAS was added to RASopathiespanel. Source: UKGTN

18 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HRAS was created by ellenmcdonagh

18 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HRAS was added to RASopathiespanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Eligibility statement prior genetic testing