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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 v4.121 | MRPS25 | Achchuthan Shanmugasundram Classified gene: MRPS25 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.121 | MRPS25 | Achchuthan Shanmugasundram Gene: mrps25 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.120 | MRPS25 | Achchuthan Shanmugasundram Phenotypes for gene: MRPS25 were changed from ?Combined oxidative phosphorylation deficiency 50 to ?Combined oxidative phosphorylation deficiency 50, OMIM:619025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.119 | MRPS25 | Achchuthan Shanmugasundram reviewed gene: MRPS25: Rating: RED; Mode of pathogenicity: None; Publications: 31039582; Phenotypes: ?Combined oxidative phosphorylation deficiency 50, OMIM:619025; 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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| Mitochondrial disorders v4.113 | MRPS25 |
Hannah Knight gene: MRPS25 was added gene: MRPS25 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS25 were set to 31039582 Phenotypes for gene: MRPS25 were set to ?Combined oxidative phosphorylation deficiency 50 Review for gene: MRPS25 was set to AMBER Added comment: PMID: 31039582 (2019) reported a 25-year-old man, born of unrelated parents, with a mitochondrial encephalomyopathy and a homozygous missense variant in the MRPS25 gene (P72L). Patient fibroblasts showed decreased protein levels of MRPS25, about one-tenth of controls. Levels of other polypeptides of the 28S ribosomal subunit were also decreased, suggesting that the mutation adversely affected assembly or stability of the 28S subunit. Further in vitro studies of patient fibroblasts showed impaired mitochondrial translation and decreased protein levels of respiratory chain complexes I, III, and IV. Expression of wildtype MRPS25 in patient fibroblasts resulted in partial restoration of OXPHOS protein levels. The findings suggested that MRPS25 is required for mitochondrial protein synthesis, and that this defect causes decreased levels of mitochondrial respiratory chain subunits and impaired mitochondrial translation. Sources: Literature |
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| Mitochondrial disorders v4.71 | MRPS23 | Achchuthan Shanmugasundram reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | MRPS23 | Zornitza Stark reviewed gene: MRPS23: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 17873122, 25663021, 28752220; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.325 | MRPS2 | Sarah Leigh Phenotypes for gene: MRPS2 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 36 617950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.324 | MRPS2 | Sarah Leigh Publications for gene: MRPS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.323 | MRPS2 | Sarah Leigh Mode of inheritance for gene: MRPS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.322 | MRPS2 | Sarah Leigh Classified gene: MRPS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.322 | MRPS2 |
Sarah Leigh Added comment: Comment on list classification: This gene was added 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 cases with functional studies. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187). |
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| Mitochondrial disorders v1.322 | MRPS2 | Sarah Leigh Gene: mrps2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | MRPS2 |
Sarah Leigh Source NHS GMS was added to MRPS2. Source Expert Review Green was added to MRPS2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Mitochondrial disorders v1.256 | MRPS23 | Ivone Leong commented on gene: MRPS23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.256 | MRPS23 | Ivone Leong Publications for gene: MRPS23 were set to PMID: 26741492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||