Undiagnosed neurocutaneous disorders
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
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Details
- Sources
-
- UKGTN
- Phenotypes
-
- Noonan syndrome
- Costello syndrome, 218040
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic short stature
- 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
- Mosaic skin disorders - Deep sequencing
- Arthrogryposis
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Multiple monogenic benign skin tumours
History Filter Activity
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for HRAS were set to Noonan syndrome; Costello syndrome, 218040
Set publications
Rebecca Foulger (Genomics England curator)Publications for HRAS were set to 26903185
Added New Source
Ellen McDonagh (Genomics England Curator)HRAS was added to Undiagnosed neurocutaneous disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)HRAS was created by ellenmcdonagh