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Mendeliome v1.1394 MRPL39 Zornitza Stark Marked gene: MRPL39 as ready
Mendeliome v1.1394 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mendeliome v1.1394 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646
Mendeliome v1.1393 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
Mendeliome v1.842 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Leigh syndrome MONDO:0009723 to Mitochondrial disease MONDO:0044970
Mendeliome v1.840 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mendeliome v1.840 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mendeliome v1.837 MRPL39 Lilian Downie edited their review of gene: MRPL39: Changed rating: GREEN; Changed phenotypes: Mitochondrial disease MONDO:0044970
Mendeliome v1.834 MRPL39 Lilian Downie gene: MRPL39 was added
gene: MRPL39 was added to Mendeliome. 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
Added comment: AR
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 (MIM 256000)
Adult with hypertrophic cardiomyopathy, lactic acidosis, ADHD
Sources: Literature
Mendeliome v0.1800 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mendeliome v0.1800 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mendeliome v0.1799 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.
Mendeliome v0.1799 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mendeliome v0.177 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Mendeliome v0.177 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.177 MRPL3 Zornitza Stark Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Mendeliome v0.176 MRPL3 Zornitza Stark Publications for gene: MRPL3 were set to
Mendeliome v0.175 MRPL3 Zornitza Stark Mode of inheritance for gene: MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.174 MRPL3 Zornitza Stark Classified gene: MRPL3 as Amber List (moderate evidence)
Mendeliome v0.174 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.0 MRPL3 Zornitza Stark gene: MRPL3 was added
gene: MRPL3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPL3 was set to Unknown