Cytopenias and congenital anaemias
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
2 reviews
Helen Brittain (Genomics England Curator)
Germline mutations are associated with Costello syndrome. This is a mulit-system disorder with significant morbidity in terms of ID, Cardiac, growth and not a significant haematological presentation. Therefore cases would not be expected to be ascertained via this panel. Not appropriate for inclusion. Rasopathy genes have been implicated in somatic form in some leukaemias but this is out of scope for the panel and the rare disease arm of the project.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome 218040
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Adult
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Adult
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- DDG2P
- Hereditary neuropathy
- Arthrogryposis
- Segmental overgrowth disorders - Deep sequencing
- Fetal hydrops
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Congenital myopathy
- RASopathies
- IUGR and IGF abnormalities
- Intellectual disability
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Pneumothorax - familial
- Neurological segmental overgrowth
- Fetal anomalies
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)HRAS was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)HRAS was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)HRAS was created by LouiseD