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| Likely inborn error of metabolism - targeted testing not possible v1.47 | RMND1 |
Ivone Leong Source NHS GMS was added to RMND1. Source London North GLH was added to RMND1. |
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| Likely inborn error of metabolism - targeted testing not possible 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 |
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| Likely inborn error of metabolism - targeted testing not possible 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 |
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