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Mitochondrial disease v2.0 MRPL3 Gene migrated from ENSG00000114686 to ENSG00000114686 (gene set migration)
Mitochondrial disease v0.896 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646
Mitochondrial disease v0.895 MRPL39 Zornitza Stark reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Marked gene: MRPL39 as ready
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Leigh Syndrome MONDO:0009723 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.864 MRPL39 Lilian Downie edited their review of gene: MRPL39: Changed phenotypes: Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.864 MRPL39 Lilian Downie gene: MRPL39 was added
gene: MRPL39 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL39 were set to PMID: 37133451
Phenotypes for gene: MRPL39 were set to Leigh Syndrome MONDO:0009723
Review for gene: MRPL39 was set to GREEN
Added comment: 3 unrelated individuals, confirmed variants in trans
Functional studies on patient fibroblasts
Multisystem disease, variable onset
2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac
failure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading
to early death (< 1 year of age))
Adult with hypertrophic cardiomyopathy, lactic acidosis, ADHD
Sources: Literature
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.261 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mitochondrial disease v0.261 MRPL3 Zornitza Stark changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Mitochondrial disease v0.18 MRPL3 Zornitza Stark Publications for gene: MRPL3 were set to
Mitochondrial disease v0.17 MRPL3 Zornitza Stark Mode of inheritance for gene: MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.16 MRPL3 Zornitza Stark Classified gene: MRPL3 as Amber List (moderate evidence)
Mitochondrial disease v0.16 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.15 MRPL3 Zornitza Stark reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.0 MRPL3 Zornitza Stark gene: MRPL3 was added
gene: MRPL3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPL3 was set to Unknown