Activity
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15 actions
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| Paediatric or syndromic cardiomyopathy v7.92 | MT-ND5 | Achchuthan Shanmugasundram changed review comment from: After consultation with the clinical team, this gene is tagged for expert review by the Genomic Laboratory Hubs on the inclusion of this gene with green rating to this panel.; to: After consultation with the clinical team, this gene is tagged for expert review by the Genomic Laboratory Hubs on the inclusion of this gene with green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.92 | MT-ND5 |
Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: MT-ND5. Tag Q3_25_NHS_review tag was added to gene: MT-ND5. |
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| Paediatric or syndromic cardiomyopathy v7.92 | MT-ND5 | Achchuthan Shanmugasundram changed review comment from: After consultation with the clinical tea, this gene is tagged for expert review by the GLHs on the inclusion of this gene with green rating to this panel.; to: After consultation with the clinical team, this gene is tagged for expert review by the Genomic Laboratory Hubs on the inclusion of this gene with green rating to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.92 | MT-ND5 | Achchuthan Shanmugasundram commented on gene: MT-ND5: After consultation with the clinical tea, this gene is tagged for expert review by the GLHs on the inclusion of this gene with green rating to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.91 | MT-ND5 |
Achchuthan Shanmugasundram changed review comment from: PMID:14520659 - Three unrelated patients with Leigh's syndrome were identified with m.13513G>A variant in MT-ND5 gene, of which one patient was reported with hypertrophic cardiomyopathy (HCM) among other clinical presentations. PMID:22759514 - A 3-generation family of Han Chinese descent was reported with maternally inherited isolated HCM. They were identified with a homoplasmic m.12338T>C variant in MT-ND5 gene, leading to the replacement of initiation methionine residue to Threonine, resulting in shortening of the ND5 polypeptide by 2 amino acids. PMID:23847141 - This study analysed the while mitochondrial DNA sequences of a cohort of 743 patients suspected of manifesting a mitochondrial disease. Nine patients were detected with a variant in MT-ND5 gene, and they presented with different combinations of phenotypes. One of four patients with m.13513G>A variants had HCM as one of the clinical features. PMID:30587702 - A 21-year-old proband presented with biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance. Skeletal muscle biopsy showed features consistent with mitochondrial myopathy. The family was identified with c.1315A>G (p.Thr439Ala) variant in MT-ND5 gene.; to: PMID:14520659 - Three unrelated patients with Leigh's syndrome were identified with m.13513G>A variant in MT-ND5 gene, of which one patient was reported with hypertrophic cardiomyopathy (HCM) among other clinical presentations. PMID:22759514 - A 3-generation family of Han Chinese descent was reported with maternally inherited isolated HCM. They were identified with a homoplasmic m.12338T>C variant in MT-ND5 gene, leading to the replacement of initiation methionine residue to Threonine, resulting in shortening of the ND5 polypeptide by 2 amino acids. PMID:23847141 - This study analysed the mitochondrial DNA sequences of a cohort of 743 patients suspected of manifesting a mitochondrial disease. Nine patients were detected with a variant in MT-ND5 gene, and they presented with different combinations of phenotypes. One of four patients with m.13513G>A variants had HCM as one of the clinical features. PMID:30587702 - A 21-year-old proband presented with biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance. Skeletal muscle biopsy showed features consistent with mitochondrial myopathy. The family was identified with c.1315A>G (p.Thr439Ala) variant in MT-ND5 gene. |
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| Paediatric or syndromic cardiomyopathy v7.86 | MT-ND5 | Jesse Hayesmoore reviewed gene: MT-ND5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14520659, PMID: 23847141, PMID: 37318682, PMID: 25681084, PMID: 12624137, PMID: 14730434, PMID: 36104228, PMID: 22759514, PMID: 30587702, PMID: 23628297, PMID: 19473338; Phenotypes: Leigh syndrome, LHON, MELAS; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.4 | MT-ND5 | Achchuthan Shanmugasundram Classified gene: MT-ND5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.4 | MT-ND5 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon on R131 Hypertrophic cardiomyopathy panel, HCM is reported as one of the presenting phenotypes in several unrelated patients with variants in MT-ND5 gene. This gene can therefore be promoted to green rating on the next GMS update. |
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| Paediatric or syndromic cardiomyopathy v7.4 | MT-ND5 | Achchuthan Shanmugasundram Gene: mt-nd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.3 | MT-ND5 | Achchuthan Shanmugasundram Tag Q2_25_ NHS_review was removed from gene: MT-ND5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.3 | MT-ND5 | Achchuthan Shanmugasundram edited their review of gene: MT-ND5: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.3 | MT-ND5 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.3 | MT-ND5 | Achchuthan Shanmugasundram Tag Q2_25_expert_review was removed from gene: MT-ND5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.3 | MT-ND5 | Achchuthan Shanmugasundram Entity copied from Hypertrophic cardiomyopathy v5.9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.3 | MT-ND5 |
Achchuthan Shanmugasundram gene: MT-ND5 was added gene: MT-ND5 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Amber,Literature Q2_25_ promote_green, Q2_25_expert_review, Q2_25_ NHS_review tags were added to gene: MT-ND5. Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL Publications for gene: MT-ND5 were set to 14520659; 22759514; 23847141; 30587702 Phenotypes for gene: MT-ND5 were set to hypertrophic cardiomyopathy, MONDO:0005045 |
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