Cytopenias and congenital anaemias
Gene: HRAS
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
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Adult
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
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
HRAS was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
HRAS was created by LouiseD