Paediatric or syndromic cardiomyopathy
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
4 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own. : Sana (2016) A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation. PLoS ONE 1(12): e0168501.doi:10.1371/journal.pone.0168501: HRAS variant detected in an affected adult with HCM who did not have a known familial MYH7 variant his daughter also carried the variants who had HCM and intellectual disability - no paediatric onset.Created: 25 Mar 2019, 4:27 p.m.
Variants in this GENE are reported as part of current diagnostic practice
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)
Gain of function mutationsCreated: 1 Feb 2016, 10:44 a.m.
Gain of function mutationsCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert List
- South West GLH
- London South GLH
- Expert Review Green
- Phenotypes
-
- Costello syndrome
- syndromic HCM
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- 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
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- DDG2P
- Sarcoma cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to HRAS.
Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Expert List was added to HRAS. Mode of pathogenicity for gene HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Costello syndrome for gene: HRAS Publications for gene HRAS were changed from PMID: 16170316; 21396583; 16969868; 16443854 to 16170316; 16443854; 21396583; 16969868
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HRAS was added gene: HRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to PMID: 16170316; 21396583; 16969868; 16443854 Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM