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Inborn errors of metabolism

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

1 review

Catherine Snow (Genomics England)

One proband identified in PMID:30358850 , OMIM entry currently based on this.
Created: 18 Nov 2019, 3:50 p.m. | Last Modified: 18 Nov 2019, 3:50 p.m.
Panel Version: 1.406

Details

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

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: MRPS14 was added gene: MRPS14 was added to Inborn errors of metabolism. Sources: Expert Review Amber,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, 618378