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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 v1.76 MRPS2 Sarah Leigh Source Expert Review Green was added to MRPS2.
Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2
Publications for gene MRPS2 were changed from to 29576219
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.47 MRPS22 Ivone Leong Source NHS GMS was added to MRPS22.
Source London North GLH was added to MRPS22.
Likely inborn error of metabolism v0.4 MRPS2 Ellen McDonagh gene: MRPS2 was added
gene: MRPS2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPS2 was set to Unknown
Phenotypes for gene: MRPS2 were set to No OMIM phenotype
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
Likely inborn error of metabolism v0.4 MRPS22 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MRPS22
Publications for gene MRPS22 were changed from to 27604308
Likely inborn error of metabolism v0.4 MRPS22 Ellen McDonagh gene: MRPS22 was added
gene: MRPS22 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)