Fetal anomalies
Gene: MRPS34

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

Leigh Syndrome with Instability of the Small Mitoribosomal Subunit

OMIM

611994

Clinvar variants

Variants in MRPS34

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MRPS34 was added gene: MRPS34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit

Fetal anomalies Gene: MRPS34