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Table 1 Clinical findings in challenge families

From: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Family Diagnosis Clinical history
1 Centronuclear myopathy and bilateral sensorineural hearing loss • 10-year-old male diagnosed with centronuclear myopathy at 13 months based on clinical exam and muscle biopsy findings
• Uses a G-tube for supplemental feeding
• Uses nighttime ventilation support
• Able to walk limited distances (up to four city blocks), to run and to climb stairs with use of a railing
• Bilateral mild low to mid-frequency hearing loss
• No contributory family history
2 Right-sided structural heart defects and conduction defects • Multiple family members with a variety of right-sided cardiac defects ranging in severity
• Proband is a 5-year-old female with history of a right ventricle mass that resolved spontaneously, persistent right bundle branch block (RBBB) and slightly dilated ascending aorta
• Mother has the same condition, not requiring intervention
• Maternal uncle has a pacemaker for Type II AV block and a history of pulmonary stenosis
• Maternal aunt died in neonatal period due to cardiac defects
• Maternal first cousin died in neonatal period due to a complex congenital cardiac defects involving hypertrophied right ventricle, tricuspid valve atresia, and second degree heart block
3 Nemaline myopathy • 7-year-old male diagnosed with nemaline myopathy at 7 months based on muscle biopsy findings and clinical exam
• Bilateral club feet, requiring casting
• Myopathic facies, decreased muscle bulk, diffuse hypotonia (axial > appendicular), decreased range of motion and mild finger contractures noted at 4.5 months
• G-tube placed at 23 months for supplemental feeding
• No ventilation support is needed
   • Can sit unsupported, but uses a walker to aid in ambulation