Growth failure in early childhood
Gene: HRAS
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Costello syndrome
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
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: CostelloCreated: 14 May 2019, 1:25 p.m.
Phenotypes
Costello
Phenotypes for gene: HRAS were changed from Costello syndrome, 218040; Costello; Costello syndrome to Costello syndrome, OMIM:218040
Publications for gene: HRAS were set to 16170316
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
Source Expert list was added to HRAS. Added phenotypes Costello for gene: HRAS
Phenotypes for gene: HRAS were changed from Costello syndrome to Costello syndrome, 218040
gene: HRAS was added gene: HRAS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to 16170316 Phenotypes for gene: HRAS were set to Costello syndrome