Epileptic encephalopathy
Gene: TCF4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pitt-Hopkins syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Publications for TCF4 were set to Zweier et al (2007) Am J Hum Genet 80: 994_1001
Mode of inheritance for TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for TCF4 were set to Pitt-Hopkins syndrome
The Gel status was updated for this whole panel
TCF4 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene TCF4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TCF4 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
TCF4 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert