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| Cardiomyopathy_Paediatric v1.38 | SLC6A8 | Lucy Spencer Classified gene: SLC6A8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.38 | SLC6A8 | Lucy Spencer Gene: slc6a8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.37 | SLC6A8 |
Lucy Spencer gene: SLC6A8 was added gene: SLC6A8 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 34050321 Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1 MIM#300352 Review for gene: SLC6A8 was set to AMBER Added comment: PMID 34050321 describe 2 individuals with creatine transporter deficiency and mild cardiomyopathy and state that a few more patients in their cohort have signed of 'developing cardiomyopathy' on ECG/echo. Sources: Literature |
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