Early onset or syndromic epilepsy
Gene: RMND1
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 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
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.
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
Source Wessex and West Midlands GLH was added to RMND1.
Source NHS GMS was added to RMND1.
Zornitza Stark: Seizures are part of the pheno
Gene: rmnd1 has been classified as Green List (High Evidence).
Gene: rmnd1 has been classified as Green List (High Evidence).
Publications for gene: RMND1 were set to
Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11, 614922
Mode of inheritance for gene: RMND1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to RMND1. Panel: Genetic Epilepsy Syndromes
RMND1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
RMND1 was created by Sarah Leigh