Angelman Rett like syndromes
Gene: TCF4
TCF4 (transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 7 Jun 2021, 12:16 a.m. | Last Modified: 7 Jun 2021, 12:16 a.m.
Panel Version: 0.90
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pitt-Hopkins syndrome, MIM# 610954
- OMIM
- 602272
- Clinvar variants
- Variants in TCF4
- Penetrance
- None
- Panels with this gene
History Filter Activity
7 Jun 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tcf4 has been classified as Green List (High Evidence).
7 Jun 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
7 Jun 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TCF4 was added gene: TCF4 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCF4 was set to Unknown