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Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Classified gene: MRPL3 as Green List (high evidence)
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Added comment: Comment on list classification: This gene was rated as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families (4 sibs + 1 unrelated case) and functional studies. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Gene: mrpl3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.196 MRPL3 Sarah Leigh Publications for gene: MRPL3 were set to 27604308
Undiagnosed metabolic disorders v1.195 MRPL3 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.195 MRPL3 Sarah Leigh Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9, 614582
Undiagnosed metabolic disorders MRPL3 Louise Daugherty reviewed MRPL3