Hypertrophic cardiomyopathy
Gene: HRAS
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
2 reviews
Rebecca Whittington (South West GLH)
Costello syndrome (218040)Created: 25 Mar 2019, 4:30 p.m.
Listed in many panels. OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Mosaic skin disorders - deep sequencing
- Fetal hydrops
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Pneumothorax - familial
- Fetal anomalies
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Monogenic short stature
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Arthrogryposis
- Pigmentary skin disorders
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to HRAS. Mode of inheritance for gene HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HRAS was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list