Overgrowth
Gene: TCF20

TCF20 (transcription factor 20)
EnsemblGeneIds (GRCh38): ENSG00000100207
EnsemblGeneIds (GRCh37): ENSG00000100207
OMIM: 603107, Gene2Phenotype
TCF20 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Many unrelated patients reported, including 24 families reported in Torti 2019 (PMID:30739909). Most variants are protein-truncating. Note, overgrowth as reported initially is not a prominent feature in this larger series.
Created: 6 Apr 2020, 9:45 a.m. | Last Modified: 6 Apr 2020, 9:45 a.m.

Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430

Publications

Created: 6 Apr 2020, 9:45 a.m.
Last Modified: 6 Apr 2020, 9:45 a.m.
Panel version: 0.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430

OMIM

603107

Clinvar variants

Variants in TCF20

Penetrance

None

Publications

Panels with this gene