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Genetic epilepsy syndromes

Gene: NRAS

Red List (low evidence)

NRAS (NRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 25 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: Amber.
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)

I don't know

? Better pathway for analysis - rasopathy panel. AD Noonan syndrome 6 - seizures not listed as a feature on OMIM.
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
Colorectal cancer, somatic, 114500; Epidermal nevus, somatic, 162900; Melanocytic nevus syndrome, congenital, somatic, 137550 ; Neurocutaneous melanosis, somatic, 249400 ; Noonan syndrome 6, 613224 ; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 ; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 ; Thyroid carcinoma, follicular, somatic, 188470

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on reviewers' comments.
Created: 11 Dec 2018, 1:15 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Noonan syndrome is not classically associated with seizures.
Created: 17 Aug 2018, 11:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NRAS.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NRAS.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Noonan syndrome is not classic

11 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nras has been classified as Red List (Low Evidence).

11 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nras has been classified as Red List (Low Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NRAS was created by Sarah Leigh