Mitochondrial disorders
Gene: ELAC2

ELAC2 (elaC ribonuclease Z 2)
EnsemblGeneIds (GRCh38): ENSG00000006744
EnsemblGeneIds (GRCh37): ENSG00000006744
OMIM: 605367, Gene2Phenotype
ELAC2 is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from OMIM and G2P.
Created: 2 Mar 2016, 11:47 a.m.

Comment on list classification: Promoted from red to green due to a green review, and it is a confirmed DD gene for infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency.
Created: 2 Mar 2016, 11:47 a.m.

Created: 2 Mar 2016, 11:47 a.m.

Panel version: 0.397

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Combined oxidative phosphorylation deficiency 17, 615440
infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency

OMIM

605367

Clinvar variants

Variants in ELAC2

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ELAC2. Panel: Mitochondrial disorders

2 Mar 2016, Gel status: 4