Epileptic encephalopathy

Gene: CYFIP2

Comment on list classification: Promoted this gene to Green from Amber, after feedback from Richard Scott (North Thames GMC/UCL and Genomics England Rare Disease Clinical Lead) to confirm that this should be Green; de novo variants within this gene have been reported in >3 unrelated cases.

Created: 14 Mar 2018, 12:24 p.m.

Comment on list classification: Promoted from red to amber to await clinical review.

Created: 14 Mar 2018, 11:50 a.m.

PMID: 29534297 - de novo variants reported in four unrelated individuals with Epileptic encephalopathy from families of different ethnicities (two families reported as Japanese, one Israeli, one Malaysian). Three variants reported - c.260G>T, c.259C>T and c.260G>C, all of which result in a missense variant at Arg position 87 > Leu/Cys/Pro. Functional assays suggest that the variants result in gain-of-function effects on the WAVE signaling pathway. WAVE family proteins play central roles in actin remodeling, axon elongation, dendritic spine morphogenesis, and synaptic plasticity in mammals.

Created: 14 Mar 2018, 11:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 29534297