Undiagnosed neurocutaneous disorders
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 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
-
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Monogenic short stature
- Fetal hydrops
- Arthrogryposis
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Pneumothorax - familial
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
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