Likely inborn error of metabolism - targeted testing not possible
Gene: RMND1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 12 Feb 2016, 11:40 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green, and it is a probable DD gene for encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.Created: 12 Feb 2016, 11:40 a.m.
Source NHS GMS was added to RMND1. Source London North GLH was added to RMND1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect for gene: RMND1 Publications for gene RMND1 were changed from to 27604308
gene: RMND1 was added gene: RMND1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMND1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect