Early onset or syndromic epilepsy
Gene: NARS2
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
AR combined oxidative phosphorylation deficiency 24 - wide phenotypic variability. Vanlander et al, 2015 - 2 sibs if consang parents - one had epilepsy - hom splice variant. Sofou et al, 2015 - Swedish boy - developed generalised seizures aged 7 months - hom missense variant. Seaver et al, 2018 - two brothers with lethal epileptic encephalopathy - compound het for NARS2 variants. Mizguchi et al, 2017 - 3 unrelated families with infantile onset dev delay/regression and epilepsy - 2 were compund het and 1 hom. Simon et al, 2015 - 2 families - family 1 - unrelated healthy caucasian parents - proband developed complex partial seizures as did an aff brother- compound het for missense and nonsense variants. Family 2 - Pakistani family - no 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency, 616239
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.Created: 4 Dec 2018, 6:11 p.m.
Comment on publications: Added publications to support upgrading of the gene to GreenCreated: 4 Dec 2018, 6:10 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 4 Dec 2018, 5:03 p.m.
Comment on mode of inheritance: added MOI from reviewCreated: 1 Oct 2018, 4:57 p.m.
Comment on mode of inheritance: changed MOI from external reviewer commentCreated: 1 Oct 2018, 4:34 p.m.
Seizures are reported in some patients with this mitochondrial disorder.Created: 17 Aug 2018, 8:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 24, MIM#616239
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NARS2.
Source NHS GMS was added to NARS2.
Zornitza Stark: Seizures are reported in some
Gene: nars2 has been classified as Green List (High Evidence).
Gene: nars2 has been classified as Green List (High Evidence).
Publications for gene: NARS2 were set to
Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24, 616239; seizures
Mode of inheritance for gene: NARS2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: NARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to NARS2. Panel: Genetic Epilepsy Syndromes
NARS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NARS2 was created by Sarah Leigh