Hypertrophic cardiomyopathy
Gene: HRAS
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 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
-
- DDG2P
- Mosaic skin disorders - deep sequencing
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Early onset or syndromic epilepsy
- Familial rhabdomyosarcoma
- Paediatric or syndromic cardiomyopathy
- RASopathies
- IUGR and IGF abnormalities
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Congenital myopathy
- Fetal anomalies
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- Sarcoma susceptibility
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Childhood solid tumours
- Sarcoma of possible germline origin
- Pneumothorax - familial
- Intellectual disability
- Monogenic short stature
- Arthrogryposis
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