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Molecular autopsy

Gene: MRPL3

Amber List (moderate evidence)
MRPL3 (mitochondrial ribosomal protein L3)
EnsemblGeneIds (GRCh38): ENSG00000114686
EnsemblGeneIds (GRCh37): ENSG00000114686
OMIM: 607118, Gene2Phenotype
MRPL3 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • syndromic HCM
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 9, 614582
OMIM
607118
Clinvar variants
Variants in MRPL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: mrpl3 has been classified as Amber List (Moderate Evidence).

20 Dec 2018, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Red was added to MRPL3. Mode of inheritance for gene MRPL3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: MRPL3 was added gene: MRPL3 was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL3 were set to 27604308 Phenotypes for gene: MRPL3 were set to syndromic HCM; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582