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
- DDG2P
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- RASopathies
- IUGR and IGF abnormalities
- Hereditary neuropathy
- Arthrogryposis
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Congenital myopathy
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- Early onset or syndromic epilepsy
- Hereditary neuropathy or pain disorder
- Sarcoma susceptibility
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Sarcoma of possible germline origin
- Hypertrophic cardiomyopathy
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