Monogenic hearing loss
Gene: MRPL49EnsemblGeneIds (GRCh38): ENSG00000149792
EnsemblGeneIds (GRCh37): ENSG00000149792
OMIM: 606866, Gene2Phenotype
MRPL49 is in 5 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 12 Dec 2025, 10:28 a.m. | Last Modified: 12 Dec 2025, 10:28 a.m.
Panel Version: 5.49
Sarah Leigh (Genomics England Curator)
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: LiteratureCreated: 13 May 2025, 3:01 p.m. | Last Modified: 13 May 2025, 3:09 p.m.
Panel Version: 5.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 60, OMIM:621195; combined oxidative phosphorylation deficiency, MONDO:0000732
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 60, OMIM:621195
- combined oxidative phosphorylation deficiency, MONDO:0000732
- OMIM
- 606866
- Clinvar variants
- Variants in MRPL49
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: MRPL49.
Added New Source, Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)Source Expert Review Green was added to MRPL49. Source NHS GMS was added to MRPL49. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_expert_review was removed from gene: MRPL49.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_25_expert_review tag was added to gene: MRPL49.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mrpl49 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: MRPL49 was added gene: MRPL49 was added to Monogenic hearing loss. Sources: Literature Q2_25_ promote_green tags were added to gene: MRPL49. Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL49 were set to 40043708 Phenotypes for gene: MRPL49 were set to Combined oxidative phosphorylation deficiency 60, OMIM:621195; combined oxidative phosphorylation deficiency, MONDO:0000732 Review for gene: MRPL49 was set to GREEN