Growth failure in early childhood
Gene: RASA2The rating of this gene has been updated to AMBER and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Comment on list classification: Three unrelated cases reported to date (PMID: 25049390) but very limited details and no segregation data. Not associated with any phenotype in OMIM or G2P, and rated LIMITED by ClinGen. Rating Amber, awaiting additional publications/clinical evidence to corroborate causality.Created: 6 Jan 2023, 10:29 a.m. | Last Modified: 6 Jan 2023, 10:29 a.m.
Panel Version: 2.22
Review submitted on behalf of Helen Storr. Mode of inheritance: AD. Phenotypes: 15 RASopathy genes are already included in the panel. These cause a range of clinical features within the Noonan syndrome / overlapping RASopathy spectrum disorders. >80% children with NS have growth failure. It is a multi-system disorder with several other important features that need to be identified/screened for including cardiac disease, cancer susceptibility, developmental problems and learning difficulties. The panel needs to updated to reflect the expanding gene list causing RASopathies. Publications: Although RASopathy genes are included on this panel, this needs to be updated / expanded with more newly identified genes and in line with current guidance (recent review - Zenker et al, Arch Dis Child 2022). Mechansim: Dysregulation of RAS-MAPK pathway with concomitant impact on growth and GH signalling. Penetrance: Variable penetrance depending on the gene - some unclear.Created: 22 Dec 2022, 11:07 a.m. | Last Modified: 22 Dec 2022, 11:07 a.m.
Panel Version: 2.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to RASA2.
Publications for gene: RASA2 were set to
Gene: rasa2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RASA2 were changed from to Noonan syndrome
Mode of inheritance for gene: RASA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: RASA2 was added gene: RASA2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: RASA2 was set to