Pigmentary skin disorders
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
COSTELLO SYNDROME; CSTLO
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: HRAS; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- CSTLO
- Costello syndrome
- Phakomatosis pigmentokeratotica
- Epidermal naevi
- Woolly hair
- Schimmelpenning syndrome
- COSTELLO SYNDROME
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Intellectual disability
- Pigmentary skin disorders
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Childhood solid tumours cancer susceptibility
- Cytopenias and congenital anaemias
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Monogenic short stature
- Sarcoma susceptibility
- Childhood solid tumours
- Arthrogryposis
- Adult solid tumours cancer susceptibility
- Congenital myopathy
- Primary lymphoedema
- Sarcoma of possible germline origin
- DDG2P
- Neurological segmental overgrowth
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes CSTLO; COSTELLO SYNDROME for gene: HRAS Publications for gene HRAS were changed from to 16170316
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to HRAS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: HRAS was added gene: HRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Woolly hair; Phakomatosis pigmentokeratotica; Costello syndrome; Schimmelpenning syndrome; Epidermal naevi