Mosaic skin disorders
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phakomatosis pigmentokeratotica; Epidermal naevi; Woolly hair; Costello syndrome; Schimmelpenning syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- NHS GMS
- Phenotypes
-
- Phakomatosis pigmentokeratotica
- Epidermal naevi
- Woolly hair
- Costello syndrome
- Schimmelpenning syndrome
- Tags
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rasopathy
- Calcium and Phosphate disorders
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Muscular dystrophy and myopathy_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hras has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: HRAS.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HRAS was added gene: HRAS was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to 22499344; 22683711; 24006476 Phenotypes for gene: HRAS were set to Phakomatosis pigmentokeratotica; Epidermal naevi; Woolly hair; Costello syndrome; Schimmelpenning syndrome