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Epileptic encephalopathy

Gene: CYFIP2

Green List (high evidence)

CYFIP2 (cytoplasmic FMR1 interacting protein 2)
EnsemblGeneIds (GRCh38): ENSG00000055163
EnsemblGeneIds (GRCh37): ENSG00000055163
OMIM: 606323, Gene2Phenotype
CYFIP2 is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
OMIM
606323
Clinvar variants
Variants in CYFIP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Mar 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYFIP2 was added to Epileptic encephalopathy panel. Sources: Literature

14 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CYFIP2 was created by Ellen McDonagh