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