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Severe microcephaly

Gene: TCF4

No list

TCF4 (transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Microcephaly reported in around 60%.
Sources: Expert list
Created: 4 Sep 2020, 1:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pitt-Hopkins syndrome, MIM# 610954

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Pitt-Hopkins syndrome, MIM# 610954
OMIM
602272
Clinvar variants
Variants in TCF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TCF4 was added gene: TCF4 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCF4 were set to 18728071; 22934316 Phenotypes for gene: TCF4 were set to Pitt-Hopkins syndrome, MIM# 610954 Review for gene: TCF4 was set to GREEN gene: TCF4 was marked as current diagnostic