Paediatric or syndromic cardiomyopathy

Gene: ELAC2

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 11:02 a.m. | Last Modified: 3 May 2024, 11:02 a.m.

Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: As reviewed by Matthew Edwards, there is sufficient evidence for the promotion of this gene to green rating in the next GMS review.

Created: 8 Aug 2023, 6:03 p.m. | Last Modified: 8 Aug 2023, 6:03 p.m.

Panel Version: 3.28

PMID:23849775 reported five individuals from three unrelated families with infantile hypertrophic cardiomyopathy and complex I deficiency. They were identified with either compound heterozygous (family 1) or homozygous (families 2 & 3) variants in ELAC2 gene.

This gene has been associated with relevant phenotypes in both OMIM (MIM #615440) and Gene2Phenotype ('definitive' rating in the DD panel).

Created: 8 Aug 2023, 6:01 p.m. | Last Modified: 8 Aug 2023, 6:01 p.m.

Panel Version: 3.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 17, OMIM:615440

Publications

• 23849775

Green List (high evidence)

Oxidative phosphorylation deficiency-17 manifests as severe infantile-onset hypertrophic cardiomyopathy (green gene on several metabolic panels, but presenting feature is HCM in first year of life)

Also recent diagnostic case through our GLH
Sources: Expert Review

Created: 4 Jul 2023, 9:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• PMID: 23849775