Mitochondrial disease
Gene: MRPL44

MRPL44 (mitochondrial ribosomal protein L44)
EnsemblGeneIds (GRCh38): ENSG00000135900
EnsemblGeneIds (GRCh37): ENSG00000135900
OMIM: 611849, Gene2Phenotype
MRPL44 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported. HCM is a prominent feature of the phenotype.
Created: 28 Aug 2020, 6:22 a.m. | Last Modified: 28 Aug 2020, 6:22 a.m.

Panel Version: 0.465

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 16, MIM# 615395

Publications

Created: 28 Aug 2020, 6:22 a.m.
Last Modified: 28 Aug 2020, 6:22 a.m.
Panel version: 0.465

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Combined oxidative phosphorylation deficiency 16, MIM# 615395

OMIM

611849

Clinvar variants

Variants in MRPL44

Penetrance

None

Publications

Panels with this gene