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Inborn errors of metabolism

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Based on reviewer's rating and published evidence.
Created: 19 Dec 2018, 12:02 p.m.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.
(Six individuals from four unrelated families reported in the literature with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 30 Aug 2018)
Sources: Expert Review, Literature
Created: 19 Dec 2018, 12:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 32 617664

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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
  • Literature
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency 32 617664
OMIM
611994
Clinvar variants
Variants in MRPS34
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

19 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mrps34 has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: MRPS34 was added gene: MRPS34 was added to Inborn errors of metabolism. Sources: Expert Review,Literature 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 Review for gene: MRPS34 was set to GREEN