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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. MRPL50
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: MRPL50

Amber List (moderate evidence)
MRPL50 (mitochondrial ribosomal protein L50)
EnsemblGeneIds (GRCh38): ENSG00000136897
EnsemblGeneIds (GRCh37): ENSG00000136897
OMIM: 611854, Gene2Phenotype
MRPL50 is in 3 panels

1 review

Anna Ritchie (Victorian Clinical Genetics Services)

I don't know

A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction.
Quantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls.
Patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants.
Knockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development.
Sources: Literature
Created: 1 Jun 2023, 1:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease, MONDO: 004470, MRPL50-related

Publications

Created: 1 Jun 2023, 1:46 a.m.

Panel version: 0.310

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial disease, MONDO: 004470, MRPL50-related
OMIM
611854
Clinvar variants
Variants in MRPL50
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrpl50 has been classified as Amber List (Moderate Evidence).

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrpl50 has been classified as Amber List (Moderate Evidence).

1 Jun 2023, Gel status: 0

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

Anna Ritchie (Victorian Clinical Genetics Services)

gene: MRPL50 was added gene: MRPL50 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL50 were set to PMID: 37148394 Phenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related Review for gene: MRPL50 was set to AMBER