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Epileptic encephalopathy

Gene: GATAD2B

Red List (low evidence)

GATAD2B (GATA zinc finger domain containing 2B)
EnsemblGeneIds (GRCh38): ENSG00000143614
EnsemblGeneIds (GRCh37): ENSG00000143614
OMIM: 614998, Gene2Phenotype
GATAD2B is in 4 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507_514

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507_514

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507_514

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507 514

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).
12 Nov 2015, 4:03 p.m.

Details

Sources
  • Expert Review Red
OMIM
614998
Clinvar variants
Variants in GATAD2B
Penetrance
Complete
Publications
  • Willemsen et al (2013) J Med Genet 50:507 514
Panels with this gene

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)

GATAD2B 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

Created

Richard Scott (North Thames GMC/UCL)

GATAD2B was created by Reviewer_03

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

GATAD2B was added to Epileptic encephalopathypanel. Sources: Expert Review