Growth failure in early childhood
Gene: RRAS2The rating of this gene has been updated to GREEN 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: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 30 Sep 2021, 10:33 a.m. | Last Modified: 30 Sep 2021, 10:33 a.m.
Panel Version: 1.72
Six unrelated families reported, GoF variants.
Sources: Expert ReviewCreated: 18 Aug 2021, 9:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 12, MIM #618624
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
Tag Q3_21_rating was removed from gene: RRAS2.
Source Expert Review Green was added to RRAS2. Source NHS GMS was added to RRAS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: RRAS2 were changed from Noonan syndrome 12, MIM #618624 to Noonan syndrome 12, OMIM:618624
Gene: rras2 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: RRAS2.
gene: RRAS2 was added gene: RRAS2 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS2 were set to 31130282 Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, MIM #618624 Mode of pathogenicity for gene: RRAS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RRAS2 was set to GREEN