Epileptic encephalopathyGene: 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.
14 Mar 2018, 12:24 p.m.
Comment on list classification: Promoted from red to amber to await clinical review.
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.
14 Mar 2018, 11:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
CYFIP2 was added to Epileptic encephalopathy panel. Sources: Literature
CYFIP2 was created by Ellen McDonagh