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| Genomic screening in children: BabyScreen+ v0.46 | LAMP2 |
Zornitza Stark Tag cardiac tag was added to gene: LAMP2. Tag treatable tag was added to gene: LAMP2. |
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| Genomic screening in children: BabyScreen+ v0.40 | LAMP2 |
Zornitza Stark changed review comment from: X-linked dominant genetic disorder characterized by cardiomyopathy, skeletal myopathy, and neurocognitive deficits Most men and many women with LAMP2 gene mutations will develop cardiac disease that includes hypertrophic cardiomyopathy and/or dilated cardiomyopathy, cardiac pre-excitation syndrome, and a propensity for arrhythmias. The prognosis is directly related to the severity of the cardiac disease, and many patients will die from sudden cardiac death. Males are typically more severely affected than females. Early onset cardiomyoapthy and neurodevelopmental phenotype - reproductive utility to prevent multiple affected pregnancies. High-penetrance cardiomyopathy with high risk of arrhythmia and or transplant. Neurodevelopmental issues allow preparation and early childhood intervention. - Ages of onset in Cohort studies and personal experience M 0.25–45 F2–58 - The family known to RCH/MMC is neonatal onset cardiomyopathy, symptomatic, potentially we should publish more formally, was presented at HGSA International natural history study ongoing. Expect therapy in next few years. Trials ongoing in Europe and US with therapy for CM and improvement in ND outcomes. Rocket Pharmaceuticals Adeno-associated- vector-501 (RP-A501) (AAV9.LAMP2B), an investigational gene therapy product for DD and the first potential gene therapy for monogenic heart failure. Sources: Expert Review; to: X-linked dominant genetic disorder characterized by cardiomyopathy, skeletal myopathy, and neurocognitive deficits Most men and many women with LAMP2 gene mutations will develop cardiac disease that includes hypertrophic cardiomyopathy and/or dilated cardiomyopathy, cardiac pre-excitation syndrome, and a propensity for arrhythmias. The prognosis is directly related to the severity of the cardiac disease, and many patients will die from sudden cardiac death. Males are typically more severely affected than females. Early onset cardiomyoapthy and neurodevelopmental phenotype - reproductive utility to prevent multiple affected pregnancies. High-penetrance cardiomyopathy with high risk of arrhythmia and or transplant. Neurodevelopmental issues allow preparation and early childhood intervention. - Ages of onset in Cohort studies and personal experience M 0.25–45 F2–58 - The family known to RCH/MMC is neonatal onset cardiomyopathy, symptomatic, potentially we should publish more formally, was presented at HGSA International natural history study ongoing. Expect therapy in next few years. Trials ongoing in Europe and US with therapy for CM and improvement in ND outcomes. Rocket Pharmaceuticals Adeno-associated- vector-501 (RP-A501) (AAV9.LAMP2B), an investigational gene therapy product for DD and the first potential gene therapy for monogenic heart failure. MODERATE actionability in paediatric patients by ClinGen. |
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| Genomic screening in children: BabyScreen+ v0.40 | LAMP2 | Zornitza Stark Marked gene: LAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.40 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.40 | LAMP2 | Zornitza Stark Classified gene: LAMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.40 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.39 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to Genomic screening in children: BabyScreen+. Sources: Expert Review 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: X-linked dominant genetic disorder characterized by cardiomyopathy, skeletal myopathy, and neurocognitive deficits Most men and many women with LAMP2 gene mutations will develop cardiac disease that includes hypertrophic cardiomyopathy and/or dilated cardiomyopathy, cardiac pre-excitation syndrome, and a propensity for arrhythmias. The prognosis is directly related to the severity of the cardiac disease, and many patients will die from sudden cardiac death. Males are typically more severely affected than females. Early onset cardiomyoapthy and neurodevelopmental phenotype - reproductive utility to prevent multiple affected pregnancies. High-penetrance cardiomyopathy with high risk of arrhythmia and or transplant. Neurodevelopmental issues allow preparation and early childhood intervention. - Ages of onset in Cohort studies and personal experience M 0.25–45 F2–58 - The family known to RCH/MMC is neonatal onset cardiomyopathy, symptomatic, potentially we should publish more formally, was presented at HGSA International natural history study ongoing. Expect therapy in next few years. Trials ongoing in Europe and US with therapy for CM and improvement in ND outcomes. Rocket Pharmaceuticals Adeno-associated- vector-501 (RP-A501) (AAV9.LAMP2B), an investigational gene therapy product for DD and the first potential gene therapy for monogenic heart failure. Sources: Expert Review |
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