Mosaic skin disorders - deep sequencing

Gene: HRAS

Green List (high evidence)

HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

G13R, G12C, Q61L, G12V
Created: 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)

Green List (high evidence)

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.

History Filter Activity

5 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene HRAS were changed from to 22499344; 22683711; 24006476

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to HRAS.

31 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 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