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Fetal anomalies

Gene: TCF20

Red List (low evidence)

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)

Red List (low evidence)

Many unrelated patients reported, including 24 families reported in Torti 2019 (PMID:30739909). Most variants are protein-truncating.

Typically presents post-natally.
Created: 6 Apr 2020, 9:07 a.m. | Last Modified: 17 Jan 2022, 8:03 a.m.
Panel Version: 0.2360

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • TCF20 syndrome
  • Developmental delay with variable intellectual impairment and behavioral abnormalities 618430
OMIM
603107
Clinvar variants
Variants in TCF20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcf20 has been classified as Red List (Low Evidence).

17 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCF20 were set to

17 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcf20 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCF20 was added gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430