Congenital myopathy
Gene: HRAS
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040
Publications
Comment on list classification: No clear evidence for primary muscle weakness in the absence of other features (e.g. HCM / Rasopathy facial gestalt) to make inclusion appropriate. Also, muscle biopsy features not consistent with inclusion criteria.Created: 6 Feb 2017, 9:24 a.m.
Above PMID contains 4 unrelated individuals with HRAS mutations who presented with significant hypotonia, however there were other features consistent with Costello syndrome inc. HOCM / dysmorphology. I cannot find clear evidence to suggest there is an isolated phenotype, distinct from Costello, that would be appropriate for use on a congenital myopathy panel.Created: 30 Jan 2017, 4:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040
Publications
Phenotypes for gene: HRAS were changed from Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040 to Costello syndrome, OMIM:218040; Congenital myopathy with excess of muscle spindles, OMIM:218040
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Phenotypes for HRAS were set to Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040
Publications for HRAS were set to 17412879
Mode of inheritance for HRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
HRAS was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen