Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.4 | MRPS23 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 14th May 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.4 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.3 | MRPS23 | Ida Ertmanska Publications for gene: MRPS23 were set to PMID: 26741492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.2 | MRPS23 | Ida Ertmanska Classified gene: MRPS23 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.2 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.2 | MRPS23 | Ida Ertmanska Gene: mrps23 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.1 | MRPS23 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: MRPS23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.1 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.372 | MRPS23 | Catherine Snow reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | MRPS23 |
Ellen McDonagh gene: MRPS23 was added gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS23 were set to PMID: 26741492 Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||