| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.29 | LAMP2 | Zornitza Stark Marked gene: LAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.29 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.29 | LAMP2 | Zornitza Stark Classified gene: LAMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.29 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.28 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: LAMP2 were set to Danon disease, MIM#300257 Review for gene: LAMP2 was set to GREEN Added comment: Presents with HCM, skeletal myopathy, and ID (though typically mild). Echocardiography is recommended at least every 1-2 years (more frequent as cardiac structural changes and symptoms progress). ECG and BNP/troponin/creatine kinase levels at least annually. Cardiac MRI imaging might be helpful in identifying mild phenotypes and should be used upon clinical suspicion or when adequate echocardiographic images are not attainable. Ambulatory 24-hour Holter monitoring (at least yearly, or every 6 months if the left atrium is dilated) or consideration of an implantable loop recorder is recommended based on the high incidence of atrial fibrillation and advanced atrioventricular block. Cardiac evaluations every three to six months, including consideration of transplant evaluation, may be appropriate in patients with evidence of significant cardiac involvement. Cardiac MRI imaging should be repeated every 2-3 years to monitor progression of fibrosis. Sources: Expert list |
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