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| DDG2P v3.12 | MRPS34 | Achchuthan Shanmugasundram reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777931; Phenotypes: Leigh Syndrome with Instability of the Small Mitoribosomal Subunit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MRPS34 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS34. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | MRPS34 | Rebecca Foulger reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MRPS34 |
Rebecca Foulger gene: MRPS34 was added gene: MRPS34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 28777931 Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit |
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