Early onset or syndromic epilepsy
Gene: TCF4
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD Pitt Hopkins syndrome. Seizures are a less common feature (~20% of cases).Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, Fuchs endothelial, 613267; Pitt-Hopkins syndrome, 610954
Publications
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.
Source Wessex and West Midlands GLH was added to TCF4.
Source NHS GMS was added to TCF4.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to TCF4. Panel: Genetic Epilepsy Syndromes
Phenotypes for TCF4 were set to Pitt-Hopkins syndrome 610954
Publications for TCF4 were set to 29604340; 17436255
TCF4 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
TCF4 was created by Sarah Leigh