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| Likely inborn error of metabolism - targeted testing not possible v1.372 | MRPS23 | Catherine Snow reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | MRPS2 |
Sarah Leigh Source Expert Review Green was added to MRPS2. Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2 Publications for gene MRPS2 were changed from to 29576219 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | MRPS22 |
Ivone Leong Source NHS GMS was added to MRPS22. Source London North GLH was added to MRPS22. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS2 |
Ellen McDonagh gene: MRPS2 was added gene: MRPS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS2 was set to Unknown Phenotypes for gene: MRPS2 were set to No OMIM phenotype |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS23 |
Ellen McDonagh gene: MRPS23 was added gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS23 were set to PMID: 26741492 Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS22 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MRPS22 Publications for gene MRPS22 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS22 |
Ellen McDonagh gene: MRPS22 was added gene: MRPS22 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS22 were set to Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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