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Possible mitochondrial disorder - nuclear genes

Gene: ELAC2

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 17, 615440

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ELAC2 was added gene: ELAC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440