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