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Epileptic encephalopathy

Gene: CSTB

Red List (low evidence)

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 18 panels

5 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)

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion in some cases. Tagged 5.12.16 by Alice Gardham
5 Dec 2016, 2:09 p.m.

History Filter Activity

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for CSTB was changed to Other - please provide details in the comments

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)

CSTB 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

1 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CSTB was added to Epileptic encephalopathypanel. Sources: Expert