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Genomic screening in children: BabyScreen+ v0.92 NF2 Lilian Rudd gene: NF2 was added
gene: NF2 was added to Genomic screening in children: BabyScreen+. Sources: Expert List
cancer tags were added to gene: NF2.
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Schwannomatosis, vestibular MIM#101000
Review for gene: NF2 was set to GREEN
Added comment: EviQ guideline:
From infancy
Annual neurological examination3
Annual speech and pure tone audiology with auditory brainstem evoked potentials3, 4
From 10-20 years
Annual cranial and spinal MRI with gadolinium enhancement (gold standard)3, 4
Once tumours are present, MRI screening should be at least annual until the individual growth rate is established.3 The ongoing interval for follow-up imaging of tumours is dependent on tumour location and growth rate3, 4
Sources: Expert List