Pneumothorax - familial
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
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: HRAS; Suggested initial gene rating: Amber; Evidence for inclusion: Lung features apparent in some RASopathy cases.; Evidence for exclusion: Highly syndromic, not a common cause of idiopathic pneumothorax.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 2:37 p.m.
Details
- Sources
-
- NHS GMS
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Pneumothorax - familial
- Neurological segmental overgrowth
- Fetal anomalies
- Fetal hydrops
- Hypertrophic cardiomyopathy
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Hereditary neuropathy
- Congenital myopathy
- RASopathies
- IUGR and IGF abnormalities
- DDG2P
- Childhood solid tumours cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Paediatric or syndromic cardiomyopathy
- Sarcoma cancer susceptibility
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- Monogenic short stature
- Mosaic skin disorders - Deep sequencing
- Arthrogryposis
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Multiple monogenic benign skin tumours
History Filter Activity
6 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: HRAS was added gene: HRAS was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: HRAS was set to