Congenital muscular dystrophy and 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
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- 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
-
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Monogenic short stature
- Fetal hydrops
- Arthrogryposis
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Pneumothorax - familial
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: HRAS was added gene: HRAS was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17412879 Phenotypes for gene: HRAS were set to Costello syndrome, OMIM:218040; Congenital myopathy with excess of muscle spindles, OMIM:218040 Penetrance for gene: HRAS were set to Complete