Likely inborn error of metabolism

Gene: MRPL49

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the association of MRPL49 with combined oxidative phosphorylation deficiency phenotype.

This gene is currently being recommended for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/MRPL49/) Hence, this gene can also be considered for promotion to green rating on this panel in the next GMS update.

Created: 7 Jun 2025, 10:30 p.m. | Last Modified: 7 Jun 2025, 10:30 p.m.

Panel Version: 8.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Four biallelic MRPL variants have been seen in nine families with Combined oxidative phosphorylation deficiency 60 (OMIM:621195)(PMID: 40043708).
Families F1 & F2 shared a haplotype and the same MRPL variant, and families F4 & F5 (with the same MRPL variant) although not apparently related, came from the same village. Intellectual disability was apparent in all nine families (mild in one family), primary ovarian insufficiency was seen in 4/5 affected females and bilateral sensorineural hearing loss was evident in 6/9 families (PMID: 40043708)
Sources: Literature

Created: 13 May 2025, 3 p.m. | Last Modified: 13 May 2025, 3:10 p.m.

Panel Version: 9.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 60, OMIM:621195; combined oxidative phosphorylation deficiency, MONDO:0000732

Publications

• 40043708