Multiple monogenic benign skin tumours
Gene: HRAS
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.Created: 19 Feb 2019, 7:43 p.m.
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: 29 Jan 2019, 10:38 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Epidermal naevi
- Costello syndrome
- Woolly hair
- Phakomatosis pigmentokeratotica
- Schimmelpenning syndrome
- Tags
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Embryonal tumour of possible germline origin
- Neurological segmental overgrowth
- Fetal hydrops
- DDG2P
- Hypertrophic cardiomyopathy
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Congenital myopathy
- Pneumothorax - familial
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
- Primary lymphoedema
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma cancer susceptibility
- Hereditary neuropathy or pain disorder
- Cytopenias and congenital anaemias
- Mosaic skin disorders - Deep sequencing
- Sarcoma susceptibility
- Intellectual disability
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Arthrogryposis
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HRAS.
19 Feb 2019, Gel status: 0
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Removed was added to HRAS. Rating Changed from Green List (high evidence) to No List (delete)
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to HRAS.
29 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: HRAS was added gene: HRAS was added to Multiple monogenic benign skin tumours. 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 Epidermal naevi; Costello syndrome; Woolly hair; Phakomatosis pigmentokeratotica; Schimmelpenning syndrome