| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Likely inborn error of metabolism - targeted testing not possible v1.52 | MRPL44 | Ellen McDonagh Publications for gene: MRPL44 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.51 | MRPL44 | Ellen McDonagh Mode of inheritance for gene: MRPL44 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.50 | MRPL44 | Ellen McDonagh Classified gene: MRPL44 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.50 | MRPL44 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green on the Mitochondrial disorders (Version 1.138) gene panel due to to reports in 3 unrelated cases/families, therefore promoting this gene in this panel to reflect this change in rating. See publications for evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.50 | MRPL44 | Ellen McDonagh Gene: mrpl44 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL44 |
Ellen McDonagh gene: MRPL44 was added gene: MRPL44 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPL44 was set to Unknown Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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