Epileptic encephalopathy
Gene: GATAD2BEnsemblGeneIds (GRCh38): ENSG00000143614
EnsemblGeneIds (GRCh37): ENSG00000143614
OMIM: 614998, Gene2Phenotype
GATAD2B is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Publications
- Willemsen et al (2013) J Med Genet 50:507_514
Natalie Trump (NHS - Great Ormond Street Hospital)
Publications
- Willemsen et al (2013) J Med Genet 50:507_514
Manju Kurian (UCL-Institute of Child Health)
Publications
- Willemsen et al (2013) J Med Genet 50:507_514
Richard Scott (North Thames GMC/UCL)
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).Created: 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
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GATAD2B was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Richard Scott (North Thames GMC/UCL)GATAD2B was created by Reviewer_03
Added New Source
Richard Scott (North Thames GMC/UCL)GATAD2B was added to Epileptic encephalopathypanel. Sources: Expert Review