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Likely inborn error of metabolism v1.47 RMND1 Ivone Leong Source NHS GMS was added to RMND1.
Source London North GLH was added to RMND1.
Likely inborn error of metabolism v0.4 RMND1 Ellen McDonagh 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
Likely inborn error of metabolism v0.4 RMND1 Ellen McDonagh 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