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| Likely inborn error of metabolism - targeted testing not possible v1.185 | MRPL3 | Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.185 | MRPL3 | Sarah Leigh Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9 614582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | MRPL3 |
Sarah Leigh Source Expert Review Green was added to MRPL3. Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3 Publications for gene MRPL3 were changed from 27604308 to 27815843; 21786366 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | MRPL3 |
Ivone Leong Source NHS GMS was added to MRPL3. Source London North GLH was added to MRPL3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL3 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL3 |
Ellen McDonagh gene: MRPL3 was added gene: MRPL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL3 were set to 27604308 Phenotypes for gene: MRPL3 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 |
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