Mitochondrial disorders
Gene: MRPS34EnsemblGeneIds (GRCh38): ENSG00000074071
EnsemblGeneIds (GRCh37): ENSG00000074071
OMIM: 611994, Gene2Phenotype
MRPS34 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.Created: 18 Dec 2018, 1:11 p.m.
Zornitza Stark (Australian Genomics)
Six individuals from four unrelated families reported in the literature with bi-allelic variants in this gene.Created: 30 Aug 2018, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 32, MIM#617664
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 32 617664
- OMIM
- 611994
- Clinvar variants
- Variants in MRPS34
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mrps34 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mrps34 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MRPS34 were changed from Combined oxidative phosphorylation deficiency 32, MIM#617664 to Combined oxidative phosphorylation deficiency 32 617664
Added New Source
Zornitza Stark (Australian Genomics)MRPS34 was added to Mitochondrial disorders panel. Sources: Expert list
Created
Zornitza Stark (Australian Genomics)MRPS34 was created by Zornitza Stark