Cerebral Palsy
Gene: TCF4EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 12 panels
3 reviews
Clare van Eyk (University of Adelaide)
5 additional individual with mono-allelic P/LP variants reported in large-scale exome sequencing study (PMID: 38693247).Created: 27 May 2024, 2:39 p.m. | Last Modified: 27 May 2024, 2:39 p.m.
Panel Version: 1.194
Phenotypes
Pitt-Hopkins syndrome, MIM# 610954
Publications
- PMID: 38693247
Chirag Patel (Genetic Health Queensland)
Moreno-De-Luca et al. (2021) reported 5 patients with cerebral palsy with de novo pathogenic variants.Created: 7 Oct 2021, 12:38 a.m. | Last Modified: 7 Oct 2021, 12:38 a.m.
Panel Version: 1.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pitt-Hopkins syndrome, MIM# 610954
Publications
- PMID: 33528536
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Severe ID, seizures, dysmorphic features, but can be ataxic. Not specifically identified in CP cohorts.
Sources: Expert ReviewCreated: 6 Oct 2021, 9:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pitt-Hopkins syndrome, MIM# 610954
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Pitt-Hopkins syndrome, MIM# 610954
- OMIM
- 602272
- Clinvar variants
- Variants in TCF4
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tcf4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tcf4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tcf4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tcf4 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tcf4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TCF4 was added gene: TCF4 was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCF4 were set to Pitt-Hopkins syndrome, MIM# 610954 Review for gene: TCF4 was set to AMBER