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  3. MRPS14
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Mitochondrial disease

Gene: MRPS14

Amber List (moderate evidence)
MRPS14 (mitochondrial ribosomal protein S14)
EnsemblGeneIds (GRCh38): ENSG00000120333
EnsemblGeneIds (GRCh37): ENSG00000120333
OMIM: 611978, Gene2Phenotype
MRPS14 is in 3 panels

2 reviews

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

One homozygous patient identified with Wolff–Parkinson–White syndrome generalised muscular hypotonia, failure to thrive and retardation of cognitive and motor development. Functional analysis showed biochemical deficiency in complex IV of the respiratory chain, and impaired mitochondrial translation (PMID: 30358850).
Created: 20 Apr 2020, 7:55 a.m. | Last Modified: 20 Apr 2020, 7:55 a.m.
Panel Version: 0.2440

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability

Publications

Created: 20 Apr 2020, 7:55 a.m.
Last Modified: 20 Apr 2020, 7:55 a.m.
Panel version: Imported from Mendeliome panel version 0.2440

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single individual reported, functional data.
Sources: Expert list
Created: 5 Jan 2020, 6:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 38, MIM# 618378

Publications

Created: 5 Jan 2020, 6:53 a.m.

Panel version: 0.272

Details

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

History Filter Activity

21 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrps14 has been classified as Red List (Low Evidence).

5 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRPS14 was added gene: MRPS14 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list 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 Combined oxidative phosphorylation deficiency 38, MIM# 618378 Review for gene: MRPS14 was set to RED