Activity

Filter

Cancel
Date Panel Item Activity
31 actions
Mitochondrial disorders v10.4 MRPS23 Ida Ertmanska changed review comment from: Additional cases:
PMID: 41506652 Mandia et al., 2026
Male proband B:II:1 with variant in MRPS23 (NM_016070.4):c.119C>T, p.(Pro40Leu) - homozygous. Individual exhibited leukoencephalopathy with distinctive white matter abnormalities, intellectual impairment, sensorineural deafness, cerebellar ataxia, pyramidal syndrome, and amyotrophic weakness in distal limbs, attributed to distal motor neuropathy. Folinic acid treatment resulted in great improvement. Fibroblast analysis showed a decrease in expression of complex I and IV subunits.

PMID: 38086984 Ittiwut et al., 2023
Report of five independent patients who had similar clinical manifestations and were homozygous for the same germline variant c.119C>T; p.P40L in MRPS23 - all from Hmong hilltribe (Thailand) - likely founder variant, estimated to have occured 1550 yrs ago. The variant is found in 2 heterozygotes in gnomAD v4.1.1.
Patients showed delayed growth and development, hearing impairment, hypoglycemia, lactic acidosis, and liver dysfunction. 1 individual had severe hearing impairment. In vitro assays of cultured fibroblasts showed combined respiratory chain complex deficiency with low activities of complexes I and IV.; to: Additional cases:
PMID: 41506652 Mandia et al., 2026
Male proband B:II:1 with variant in MRPS23 (NM_016070.4):c.119C>T, p.(Pro40Leu) - homozygous. Individual exhibited leukoencephalopathy with distinctive white matter abnormalities, intellectual impairment, sensorineural deafness, cerebellar ataxia, pyramidal syndrome, and amyotrophic weakness in distal limbs, attributed to distal motor neuropathy. Folinic acid treatment resulted in great improvement. Fibroblast analysis showed a decrease in expression of complex I and IV subunits.

PMID: 38086984 Ittiwut et al., 2023
Report of five independent patients who had similar clinical manifestations and were homozygous for the same germline variant c.119C>T; p.P40L in MRPS23 - all from Hmong hilltribe (Thailand) - likely founder variant, estimated to have occured 1550 yrs ago. The variant is found in 2 heterozygotes in gnomAD v4.1.1.
Patients showed delayed growth and development, hearing impairment, hypoglycemia, lactic acidosis, and liver dysfunction. 1 individual had severe hearing impairment. In vitro assays of cultured fibroblasts showed combined respiratory chain complex deficiency with low activities of complexes I and IV.
Mitochondrial disorders v10.4 MRPS23 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: MRPS23.
Mitochondrial disorders v10.4 MRPS23 Ida Ertmanska commented on gene: MRPS23: Comment on phenotypes: OMIM phenotype updated 14th May 2026.
Mitochondrial disorders v10.4 MRPS23 Ida Ertmanska Phenotypes for gene: MRPS23 were changed from hepatic disease and combined respiratory chain complex deficiencies to ?Combined oxidative phosphorylation deficiency 46, OMIM:618952; combined oxidative phosphorylation deficiency 46, MONDO:0033534
Mitochondrial disorders v10.3 MRPS23 Ida Ertmanska Publications for gene: MRPS23 were set to 26741492
Mitochondrial disorders v10.2 MRPS23 Ida Ertmanska Classified gene: MRPS23 as Amber List (moderate evidence)
Mitochondrial disorders v10.2 MRPS23 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated cases with biallelic MRPS23 missense variants and a Combined oxidative phosphorylation deficiency (defects in CI and CIV shown in fibroblast cultures). Hence, this gene should be promoted to Green at the next GMS update.
Mitochondrial disorders v10.2 MRPS23 Ida Ertmanska Gene: mrps23 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v10.1 MRPS23 Ida Ertmanska reviewed gene: MRPS23: Rating: GREEN; Mode of pathogenicity: None; Publications: 38086984, 41506652; Phenotypes: ?Combined oxidative phosphorylation deficiency 46, OMIM:618952, combined oxidative phosphorylation deficiency 46, MONDO:0033534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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
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).
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)
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