Paediatric or syndromic cardiomyopathy
Gene: ELAC2
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
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 ReviewCreated: 4 Jul 2023, 9:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene: elac2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, OMIM:615440
Publications for gene: ELAC2 were set to PMID: 23849775
Tag Q3_23_promote_green tag was added to gene: ELAC2. Tag Q3_23_NHS_review tag was added to gene: ELAC2.
gene: ELAC2 was added gene: ELAC2 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELAC2 were set to PMID: 23849775 Penetrance for gene: ELAC2 were set to unknown Review for gene: ELAC2 was set to GREEN