1. Panels
  2. Severe microcephaly
  3. MRPL49
Genes in panel
Prev Next
STRs in panel
Prev Next

Severe microcephaly

Gene: MRPL49

Amber List (moderate evidence)
MRPL49 (mitochondrial ribosomal protein L49)
EnsemblGeneIds (GRCh38): ENSG00000149792
EnsemblGeneIds (GRCh37): ENSG00000149792
OMIM: 606866, Gene2Phenotype
MRPL49 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

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, 3:09 p.m.
Panel Version: 9.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 13 May 2025, 3 p.m.
Last Modified: 13 May 2025, 3:09 p.m.
Copied from panel: Intellectual disability v9.128

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 60, OMIM:621195
  • combined oxidative phosphorylation deficiency, MONDO:0000732
Tags
Q2_25_ promote_green
OMIM
606866
Clinvar variants
Variants in MRPL49
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: MRPL49 was added gene: MRPL49 was added to Severe microcephaly. Sources: Literature,Expert Review Amber 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