Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: MRPL40

Red List (low evidence)

MRPL40 (mitochondrial ribosomal protein L40)
EnsemblGeneIds (GRCh38): ENSG00000185608
EnsemblGeneIds (GRCh37): ENSG00000185608
OMIM: 605089, Gene2Phenotype
MRPL40 is in 2 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

No evidence linking variants in this gene with disease currently, although a very plausible candidate.
Created: 30 Aug 2018, 8:14 a.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature;

good candidate gene - encodes protein component of mitochondrial large ribosomal subunit
Created: 4 Feb 2016, 6:26 p.m.


Mode of Inheritance
  • Expert Review Red
  • No OMIM phenotype
Clinvar variants
Variants in MRPL40
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MRPL40 was added gene: MRPL40 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPL40 was set to Unknown Phenotypes for gene: MRPL40 were set to No OMIM phenotype