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| Cardiomyopathy_Paediatric v1.49 | NDUFA5 | Sarah Milton Classified gene: NDUFA5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.49 | NDUFA5 | Sarah Milton Gene: ndufa5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.48 | NDUFA5 | Sarah Milton edited their review of gene: NDUFA5: Changed phenotypes: Mitochondrial disease, MONDO:0044970, NDUFA5-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.48 | NDUFA5 |
Sarah Milton gene: NDUFA5 was added gene: NDUFA5 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA5 were set to 41916321 Phenotypes for gene: NDUFA5 were set to Mitochondrial disease, MONDO:0044970 Review for gene: NDUFA5 was set to AMBER Added comment: PMID 41916321 reports 4 individuals from 3 unrelated families with biallelic loss-of-function NDUFA5 variants presenting with early onset multisystem mitochondrial disorder with complex I deficiency. One individual had hypertrophic cardiomyopathy and one had slight biventricular hypertrophy. Paediatric onset HCM is likely to be a feature of this disorder given it is seen in other complex I deficiencies however few patients have been reported thus far. Sources: Literature |
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| Cardiomyopathy_Paediatric v0.231 | Zornitza Stark removed gene:NDUFA5 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.230 | Zornitza Stark Copied gene NDUFA5 from panel Mitochondrial disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.230 | NDUFA5 |
Zornitza Stark gene: NDUFA5 was added gene: NDUFA5 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA5 were set to 41916321 Phenotypes for gene: NDUFA5 were set to Complex I deficiency Penetrance for gene: NDUFA5 were set to Complete |
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