Mosaic skin disorders - deep sequencing
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
G13R, G12C, Q61L, G12VCreated: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermal naevi; Schimmelpenning syndrome; Phakomatosis pigmentokeratotica; Woolly hair; Costello syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
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, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Woolly hair
- Phakomatosis pigmentokeratotica
- Costello syndrome
- Schimmelpenning syndrome
- Epidermal naevi
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Pigmentary skin disorders
- Fetal hydrops
- Familial rhabdomyosarcoma
- Pneumothorax - familial
- 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
- Fetal anomalies
- Neurological segmental overgrowth
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene HRAS were changed from to 22499344; 22683711; 24006476
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 Mosaic skin disorders - deep sequencing. 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