Ataxia and cerebellar anomalies - narrow panelRegion: ISCA-37478-Gain
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome