| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paediatric or syndromic cardiomyopathy v1.67 | NDUFA10 | Ivone Leong commented on gene: NDUFA10: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.67 | NDUFA1 | Ivone Leong commented on gene: NDUFA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.66 | NDUFA10 |
Ivone Leong Source Expert Review Amber was added to NDUFA10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v1.66 | NDUFA1 |
Ivone Leong Source Expert Review Amber was added to NDUFA1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v0.53 | NDUFA1 | Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore promoted it from Red status to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.52 | NDUFA1 |
Ivone Leong Source Expert Review Green was added to NDUFA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v0.16 | NDUFA1 | Ivone Leong edited their review of gene: NDUFA1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | NDUFA11 | Ivone Leong commented on gene: NDUFA11: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | NDUFA10 | Ivone Leong commented on gene: NDUFA10: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | NDUFA1 |
Ivone Leong Source Expert Review Red was added to NDUFA1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Paediatric or syndromic cardiomyopathy v0.6 | NDUFA11 |
Ivone Leong gene: NDUFA11 was added gene: NDUFA11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236 |
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| Paediatric or syndromic cardiomyopathy v0.6 | NDUFA10 |
Ivone Leong gene: NDUFA10 was added gene: NDUFA10 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243 |
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| Paediatric or syndromic cardiomyopathy v0.6 | NDUFA1 |
Ivone Leong gene: NDUFA1 was added gene: NDUFA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020 |
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