Congenital myopathy
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040
Publications
Helen Brittain (Genomics England Curator)
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
- PMID 17412879
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Costello syndrome, OMIM:218040
- Congenital myopathy with excess of muscle spindles, OMIM:218040
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- DDG2P
- Sarcoma cancer susceptibility
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Helen Brittain (Genomics England Curator)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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for HRAS were set to Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040
Set publications
Helen Brittain (Genomics England Curator)Publications for HRAS were set to 17412879
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for HRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()HRAS was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen