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  2. Possible mitochondrial disorder - nuclear genes
  3. MRPS14
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Possible mitochondrial disorder - nuclear genes

Gene: MRPS14

Amber List (moderate evidence)
MRPS14 (mitochondrial ribosomal protein S14)
EnsemblGeneIds (GRCh38): ENSG00000120333
EnsemblGeneIds (GRCh37): ENSG00000120333
OMIM: 611978, Gene2Phenotype
MRPS14 is in 4 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 38, 618378

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 1:44 p.m.
Created: 29 Mar 2019, 1:44 p.m.

Panel version: 0.37

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
OMIM
611978
Clinvar variants
Variants in MRPS14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MRPS14 were changed from No OMIM phenotype to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: mrps14 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: MRPS14 was added gene: MRPS14 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS14 were set to 30358850 Phenotypes for gene: MRPS14 were set to No OMIM phenotype