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| Cardiomyopathy_Paediatric v1.47 | LETM1 |
Sarah Milton changed review comment from: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes hypertrophic cardiomyopathy (36% of cases). Sources: Literature; to: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes paediatric onset hypertrophic cardiomyopathy (36% of cases). Sources: Literature |
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| Cardiomyopathy_Paediatric v1.47 | LETM1 | Sarah Milton Classified gene: LETM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.47 | LETM1 | Sarah Milton Gene: letm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.46 | LETM1 |
Sarah Milton gene: LETM1 was added gene: LETM1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214 Phenotypes for gene: LETM1 were set to neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, MONDO:0859304 Review for gene: LETM1 was set to GREEN Added comment: PMID 36055214 reports 18 individuals from 11 families (collapsed to 9 independent families) with biallelic LETM1 loss-of-function or missense variants presenting with childhood-onset mitochondrial disease that occasionally includes hypertrophic cardiomyopathy (36% of cases). Sources: Literature |
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