Early onset or syndromic epilepsy

Gene: RMND1

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

Green List (high evidence)

AR Combined oxidative phosphorylation defic 11 - neonatal hypotonia and lactic acidosis, seizures are a feature. Ferreiro-Barros et al, 2008 - male infant consang parents with severe neonatal encephalopathy and death at 18 months - myoclonic jerks at age 3 days - 4 additional aff family members reported by Garcia-Diaz et al, 2012 - similar phenotype - 3 death in first year of life and 1 stillbirth - all had hom mutation - parents het carriers. Janer et al, 2012 - female infant of consang parents - seizures developed on day 6 - hom variant. Taylor et al 2014 - 5 unrelated children with consang British parents - all had a hom variant and hsaplotype anaylsis suggested a founder effect. Also tested a 6th patient with sim features - compound het. Janer et al, 205 - boy with unrelated causcasian parents - epilepsy began at 8 weeks, died aged 4 - compound het some functional work done. Ravn et al, 2016 - 2 sisters, unrelated parents - milder form and longer survival - one had seizures - both compound het.

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, 614922

Publications

• 23022098
• 27412952

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases in which seizures are a phenotypic feature.

Created: 26 Nov 2018, 5:31 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this mitochondrial disorder.

Created: 20 Aug 2018, 10:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 11, MIM#614922

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