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  3. MRPS34
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Molecular autopsy

Gene: MRPS34

Green List (high evidence)
MRPS34 (mitochondrial ribosomal protein S34)
EnsemblGeneIds (GRCh38): ENSG00000074071
EnsemblGeneIds (GRCh37): ENSG00000074071
OMIM: 611994, Gene2Phenotype
MRPS34 is in 7 panels

0 reviews

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
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 32 617664 for gene: MRPS34

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 32 617664 for gene: MRPS34

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MRPS34 was added gene: MRPS34 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 28777931 Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32 617664