Mitochondrial disease
Gene: MRPS23EnsemblGeneIds (GRCh38): ENSG00000181610
EnsemblGeneIds (GRCh37): ENSG00000181610
OMIM: 611985, Gene2Phenotype
MRPS23 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families reported.Created: 3 Feb 2020, 8:26 a.m. | Last Modified: 12 Apr 2020, 8:07 a.m.
Panel Version: 0.342
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Phenotypes
-
- Hepatic disease
- Combined respiratory chain complex deficiencies
- Cardiomyopathy
- Tubulopathy
- Lactic acidosis
- Structural brain abnormalities
- Combined oxidative phosphorylation deficiency 46, MIM618952
- OMIM
- 611985
- Clinvar variants
- Variants in MRPS23
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MRPS23 were set to 26741492
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrps23 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrps23 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MRPS23 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mrps23 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MRPS23 was added gene: MRPS23 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MRPS23 was set to Unknown