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Genetic epilepsy syndromes

Gene: HRAS

Green List (high evidence)

HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 31 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD Costello syndrome. Rare multiple congenital anomaly syndrome associated in all cases with a charateristic coarse facies, short stature, distinctive hand postire and appearance, severe feeding diff, failure to thrive. Seizures doesn't appear to be a common feature but has been reported in a few papers: Kawame et al, 2003 - retrospective view of 10 children with Costello syndrome - 5/10 had seizures - suggest that those in the newborn period might be due to hypoglycemic episodes - do not fit into a predictable type and age of onset varied. Delrue et al, 2003 - in this paper they say that electrophysiological abnormalities have been described in Costello and EEG findings available for 49 children -only 20% had seizures. Hennekam et al, 2003 - table 1 73 cases reported in the literature 6/15 had seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200

Publications

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green. There are 3+ cases reporting of unrelated patients with Costello syndrome who have seizures (PMID: 28337834, 27195699, 26888048, 22926243) and all patients have different HRAS variants (heterozygous).

It is also confirmed as being associated with Costello syndrome on OMIM and Gene2Phenotype.
Created: 15 Nov 2018, 2:59 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature in about 20-50% of individuals with Costello syndrome.
Created: 15 Aug 2018, 1:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Costello syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HRAS.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HRAS.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature in abou

15 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hras has been classified as Green List (High Evidence).

15 Nov 2018, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HRAS were set to

15 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: hras has been classified as Green List (High Evidence).

15 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

15 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, 218040; Schimmelpenning-Feuerstein-Mims syndrome, 218040

15 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HRAS were changed from to Costello syndrome, 218040

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to HRAS. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HRAS was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

HRAS was created by Sarah Leigh