Possible mitochondrial disorder - nuclear genes

Gene: MRPL39

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 12 Dec 2025, 11 a.m. | Last Modified: 12 Dec 2025, 11 a.m.

Panel Version: 4.17

Green List (high evidence)

Comment on list classification: As reviewed by Hannah Knight, there are three unrelated patients reported to be presenting with multisystem diseases with severity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with survival into adulthood. Two of these patients with more severe infantile-onset disease were identified with compound heterozygous frameshift variants in MRPL39 gene, while the third patient with milder disease was homozygous for a missense variant. There is also functional evidence available from patient fibroblasts.

As there is sufficient evidence available for the association of this gene with mitochondrial disease, this gene should be recommended for promotion to green rating in the next GMS update.

Created: 6 Nov 2024, 10:51 a.m. | Last Modified: 6 Nov 2024, 10:51 a.m.

Panel Version: 8.4

Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #620646), but not yet in Gene2Phenotype.

Created: 6 Nov 2024, 10:40 a.m. | Last Modified: 6 Nov 2024, 10:40 a.m.

Panel Version: 8.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 59, OMIM:620646

Publications

• 37133451

Green List (high evidence)

PMID: 37133451 (2023) describe three patients with biallelic variants in MRPL39 and paediatric onset mitochondrial disease. Three frameshift variants and one missense variant reported
Sources: Literature

Created: 17 Oct 2024, 3:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 59

Publications

• PMID: 37133451