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Epileptic encephalopathy

Gene: CBL

Red List (low evidence)

CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Ellen McDonagh (Genomics England Curator)

Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 3:56 p.m.

History Filter Activity

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CBL was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

CBL was added to Epileptic encephalopathypanel. Sources: Expert Review

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

CBL was created by Reviewer_03