Mitochondrial disease
Gene: ELAC2

ELAC2 (elaC ribonuclease Z 2)
EnsemblGeneIds (GRCh38): ENSG00000006744
EnsemblGeneIds (GRCh37): ENSG00000006744
OMIM: 605367, Gene2Phenotype
ELAC2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

In 5 patients from 3 unrelated families with combined oxidative phosphorylation deficiency-17 (COXPD17; 615440) manifest as severe infantile-onset hypertrophic cardiomyopathy, Haack et al. (2013) identified compound heterozygous or homozygous mutations in the ELAC2 gene (605367.0006-605367.0009). The initial mutations were found be exome sequencing. In addition to cardiomyopathy, which resulted in death in childhood in 3 patients, affected individuals had hypotonia, lactic acidosis, poor growth, and delayed psychomotor development. Biochemical studies in patient skeletal muscle showed decreased mitochondrial complex I activity; some cells also showed decreases in complex IV.
Created: 26 Nov 2021, 2:21 a.m. | Last Modified: 26 Nov 2021, 2:21 a.m.

Panel Version: 0.661

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 17, MIM#615440

Publications

Created: 26 Nov 2021, 2:21 a.m.
Last Modified: 26 Nov 2021, 2:21 a.m.
Panel version: 0.661

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 17, MIM#615440

OMIM

605367

Clinvar variants

Variants in ELAC2

Penetrance

None

Publications

Panels with this gene