Activity
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11 actions
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| Paediatric or syndromic cardiomyopathy v7.34 | NDUFA4 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although there are at least three unrelated patients reported with biallelic variants in NDUFA4 gene, only one patient (one from 100,000 genomes project) presented with cardiomyopathy. Hence, this gene can only be rated red with the current evidence.; to: Comment on list classification: Although there are at least three unrelated patients reported with biallelic variants in NDUFA4 gene, only one patient (one from the UK 100,000 genomes project) presented with cardiomyopathy. Hence, this gene can only be rated red with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.26 | NDUFA4 | Achchuthan Shanmugasundram Classified gene: NDUFA4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.26 | NDUFA4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are at least three unrelated patients reported with biallelic variants in NDUFA4 gene, only one patient (one from 100,000 genomes project) presented with cardiomyopathy. Hence, this gene can only be rated red with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.26 | NDUFA4 | Achchuthan Shanmugasundram Gene: ndufa4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.25 | NDUFA4 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 26 August 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.25 | NDUFA4 | Achchuthan Shanmugasundram Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065; mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.24 | NDUFA4 | Achchuthan Shanmugasundram Publications for gene: NDUFA4 were set to 23746447, 29636225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.23 | NDUFA4 | Achchuthan Shanmugasundram reviewed gene: NDUFA4: Rating: RED; Mode of pathogenicity: None; Publications: 23746447, 38674434, 39472908; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065, mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | NDUFA4 | Ivone Leong edited their review of gene: NDUFA4: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | NDUFA4 |
Ivone Leong Source Expert Review Amber was added to NDUFA4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v0.6 | NDUFA4 |
Ivone Leong gene: NDUFA4 was added gene: NDUFA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA4 were set to 23746447, 29636225 Phenotypes for gene: NDUFA4 were set to No OMIM phenotype |
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