Early onset or syndromic epilepsy
Gene: NRAS
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
? 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
Comment on list classification: Based on reviewers' comments.Created: 11 Dec 2018, 1:15 p.m.
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
Source Wessex and West Midlands GLH was added to NRAS.
Source NHS GMS was added to NRAS.
Zornitza Stark: Noonan syndrome is not classic
Gene: nras has been classified as Red List (Low Evidence).
Gene: nras has been classified as Red List (Low Evidence).
Expert Review Amber was added to NRAS. Panel: Genetic Epilepsy Syndromes
NRAS was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NRAS was created by Sarah Leigh