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  3. TCF20
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Fetal anomalies

Gene: TCF20

Amber List (moderate evidence)
TCF20 (transcription factor 20)
EnsemblGeneIds (GRCh38): ENSG00000100207
EnsemblGeneIds (GRCh37): ENSG00000100207
OMIM: 603107, Gene2Phenotype
TCF20 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Previous amber rating: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare). New paper PMID: 40066675 isolated FGR, 1 fetus FGR 26 wks with de novo LP variant TCF20. Suggest keep amber as doesn't add much to evidence
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay with variable intellectual impairment and behavioral abnormalities

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: updated as phenotype added to OMIM in May 2019
Created: 27 Jun 2019, 3:27 p.m. | Last Modified: 27 Jun 2019, 3:27 p.m.
Panel Version: 0.288
Created: 27 Jun 2019, 3:27 p.m.
Last Modified: 27 Jun 2019, 3:27 p.m.
Panel version: 0.288

Rebecca Foulger (Genomics England curator)

I don't know

As agreed with Anna de Burca (Genomics England Clinical team): Keep TCF20 as Amber: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare).
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
DDG2P rating in original PAGE list: Confirmed for TCF20 syndrome
Created: 11 Dec 2018, 9:05 a.m.

Publications

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.311

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Developmental delay with variable intellectual impairment and behavioral abnormalities 618430
  • TCF20 syndrome
  • Developmental delay with variable intellectual impairment and behavioral abnormalities
OMIM
603107
Clinvar variants
Variants in TCF20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

Set mode of inheritance, Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene TCF20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities for gene: TCF20 Publications for gene: TCF20 were updated from to 30819258; 40066675

25 Jul 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to TCF20. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TCF20 were changed from TCF20 syndrome to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TCF20 was added gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCF20 were set to TCF20 syndrome