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Epileptic encephalopathy

Gene: TBL1XR1

Red List (low evidence)

TBL1XR1 (transducin beta like 1 X-linked receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000177565
EnsemblGeneIds (GRCh37): ENSG00000177565
OMIM: 608628, Gene2Phenotype
TBL1XR1 is in 5 panels

4 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Sources
  • Expert Review Red
OMIM
608628
Clinvar variants
Variants in TBL1XR1
Penetrance
Complete
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)

TBL1XR1 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)

TBL1XR1 was added to Epileptic encephalopathypanel. Sources: Expert Review

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

TBL1XR1 was created by Reviewer_03