Mitochondrial disease
Gene: MRPS34

MRPS34 (mitochondrial ribosomal protein S34)
EnsemblGeneIds (GRCh38): ENSG00000074071
EnsemblGeneIds (GRCh37): ENSG00000074071
OMIM: 611994, Gene2Phenotype
MRPS34 is in 4 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF proven
Created: 9 Jul 2020, 5:43 a.m. | Last Modified: 9 Jul 2020, 5:43 a.m.

Panel Version: 0.3281

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 32, 61766

Publications

PMID: 28777931

Created: 9 Jul 2020, 5:43 a.m.
Last Modified: 9 Jul 2020, 5:43 a.m.
Panel version: Imported from Mendeliome panel version 0.3281

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy
Created: 10 Mar 2020, 4:13 a.m. | Last Modified: 10 Mar 2020, 4:13 a.m.

Panel Version: 0.108

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 32, MIM# 617664

Publications

28777931

Created: 10 Mar 2020, 4:13 a.m.
Last Modified: 10 Mar 2020, 4:13 a.m.
Panel version: 0.108

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 32, MIM# 617664

OMIM

611994

Clinvar variants

Variants in MRPS34

Penetrance

None

Publications

28777931

Panels with this gene