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Severe Paediatric Disorders v0.12 | MRPS34 | Louise Daugherty reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MRPS34 | Louise Daugherty Publications for gene MRPS34 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MRPS34 | Louise Daugherty Mode of inheritance for gene MRPS34 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MRPS34 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MRPS34 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MRPS34 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MRPS34 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MRPS34 | Louise Daugherty Source Next Generation Children Project was added to MRPS34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MRPS34 |
Louise Daugherty Source Expert Review Green was added to MRPS34. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MRPS34 |
Louise Daugherty gene: MRPS34 was added gene: MRPS34 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MRPS34 was set to |