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Fetal anomalies

Gene: HRAS

Green List (high evidence)
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in HRAS in a case where the main ultrasound finding was Hydrops (Table 1).
Created: 24 May 2019, 10:53 a.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for COSTELLO SYNDROME and Confirmed for CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Activating for both disorders.
Created: 8 Nov 2018, 4:45 p.m.

Phenotypes
Hydrops

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.318

History Filter Activity

23 May 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: HRAS were set to

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES for gene: HRAS

8 Nov 2018, 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 Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HRAS were set to COSTELLO SYNDROME