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| Paediatric or syndromic cardiomyopathy v4.3 | ELAC2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ELAC2. Tag Q3_23_NHS_review was removed from gene: ELAC2. |
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| Paediatric or syndromic cardiomyopathy v4.3 | ELAC2 | Sarah Leigh reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.2 | ELAC2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ELAC2. Source Expert Review Green was added to ELAC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v3.28 | ELAC2 | Achchuthan Shanmugasundram Classified gene: ELAC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.28 | ELAC2 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.28 | ELAC2 | Achchuthan Shanmugasundram Gene: elac2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.27 | ELAC2 | Achchuthan Shanmugasundram Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, OMIM:615440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.26 | ELAC2 | Achchuthan Shanmugasundram Publications for gene: ELAC2 were set to PMID: 23849775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.25 | ELAC2 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ELAC2. Tag Q3_23_NHS_review tag was added to gene: ELAC2. |
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| Paediatric or syndromic cardiomyopathy v3.25 | ELAC2 | Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775; Phenotypes: Combined oxidative phosphorylation deficiency 17, OMIM:615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.12 | ELAC2 |
Matthew Edwards 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 Added comment: 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 |
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