Neurological segmental overgrowth
Gene: HRAS
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
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Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
- Hemimegalencephaly
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
31 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: HRAS was added gene: HRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: HRAS was set to Phenotypes for gene: HRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly