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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 2 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.
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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
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