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| Mitochondrial disorders v4.123 | MRPS28 | Achchuthan Shanmugasundram Classified gene: MRPS28 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.123 | MRPS28 | Achchuthan Shanmugasundram Gene: mrps28 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.122 | MRPS28 | Achchuthan Shanmugasundram Phenotypes for gene: MRPS28 were changed from ?Combined oxidative phosphorylation deficiency 47 to ?Combined oxidative phosphorylation deficiency 47, OMIM:618958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.121 | MRPS28 | Achchuthan Shanmugasundram changed review comment from: PMID:30566640 reported a single patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay and identified with a seemingly homozygous missense variant c.356A>G/ p.Lys119Arg. The variant was present in the mother in a heterozygous state, but not in the father who likely carried a large deletion spanning exon 2 and parts of introns 1 and 2 that could account for the apparent homozygosity of the patient.; to: PMID:30566640 reported a single patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay and identified with biallelic MRPS28 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.121 | MRPS28 | Achchuthan Shanmugasundram reviewed gene: MRPS28: Rating: RED; Mode of pathogenicity: None; Publications: 30566640; Phenotypes: ?Combined oxidative phosphorylation deficiency 47, OMIM:618958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.113 | MRPS28 |
Hannah Knight gene: MRPS28 was added gene: MRPS28 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS28 were set to 30566640 Phenotypes for gene: MRPS28 were set to ?Combined oxidative phosphorylation deficiency 47 Review for gene: MRPS28 was set to AMBER Added comment: PMID: 30566640 (2019) reported a 30-year-old man with a multisystemic mitochondrial disorder and compound heterozygous variants in the MRPS28 gene. Patient fibroblasts showed decreased MRPS28 protein levels compared to controls. There were variable deficiencies of complexes I, III, IV, and V activities and complex assembly associated with decreased mitochondrial respiration activity in vitro. Additional studies of patient fibroblasts showed impaired assembly of the small mitoribosomal subunit (bS1m, encoded by MRPS28), decreased levels of 12S rRNA, and impaired mitochondrial translation. These defects could be rescued by expression of wildtype MRPS28 Sources: Literature |
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