Epileptic encephalopathy
Gene: TCF4EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 8 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
- Zweier et al (2007) Am J Hum Genet 80: 994_1001
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
- Zweier et al (2007) Am J Hum Genet 80: 994_1001
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
- Zweier et al (2007) Am J Hum Genet 80: 994_1001
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
- Zweier et al (2007) Am J Hum Genet 80: 994 1001
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Monoallelic confirmed on G2P and OMIM. TCF4 not on imprinted gene list.Created: 29 Jan 2016, 12:23 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Pitt-Hopkins syndrome
- OMIM
- 602272
- Clinvar variants
- Variants in TCF4
- Penetrance
- Complete
- Publications
-
- Zweier et al (2007) Am J Hum Genet 80: 994_1001
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TCF4 were set to Zweier et al (2007) Am J Hum Genet 80: 994_1001
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TCF4 were set to Pitt-Hopkins syndrome
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)TCF4 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TCF4 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)TCF4 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert