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| Additional findings_Adult v1.53 | SLC22A5 | Zornitza Stark Marked gene: SLC22A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.53 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.53 | SLC22A5 | Zornitza Stark Classified gene: SLC22A5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.53 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.52 | SLC22A5 |
Zornitza Stark gene: SLC22A5 was added gene: SLC22A5 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM# 212140 Review for gene: SLC22A5 was set to GREEN Added comment: MODERATE actionability in adults by ClinGen. Adulthood presentation is associated with minor symptoms like fatigue and decreased stamina, but dilated cardiomyopathy and arrhythmias and sudden cardiac death have also been reported. The main treatment for CDSP is lifelong oral levocarnitine (L-carnitine) supplementation. The benefit of treatment in asymptomatic adults is less well established, but is hoped it may prevent cardiac events and decompensations. Metabolic decompensation and hypoglycaemic episodes are treated with glucose in addition to carnitine supplementation. Referral to cardiology for cardiomyopathy assessment is recommended. Sources: Expert list |
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