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Severe Paediatric Disorders v0.12 | MRPL44 | Louise Daugherty reviewed gene: MRPL44: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MRPL44 | Louise Daugherty Publications for gene MRPL44 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MRPL44 | Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MRPL44 | Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MRPL44 | Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MRPL44 | Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MRPL44 |
Louise Daugherty Mode of inheritance for gene MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44 |
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Severe Paediatric Disorders v0.7 | MRPL44 | Louise Daugherty Source Next Generation Children Project was added to MRPL44. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MRPL44 |
Louise Daugherty Source Expert Review Amber was added to MRPL44. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Severe Paediatric Disorders v0.4 | MRPL44 |
Louise Daugherty gene: MRPL44 was added gene: MRPL44 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MRPL44 was set to |