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Intellectual disability syndromic and non-syndromic

Gene: TCF20

Green List (high 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)

Green List (high evidence)

Many unrelated patients reported, including 24 families reported in Torti 2019 (PMID:30739909). Most variants are protein-truncating.
Created: 6 Apr 2020, 9:07 a.m. | Last Modified: 6 Apr 2020, 9:07 a.m.
Panel Version: 0.2512

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, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

History Filter Activity

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcf20 has been classified as Green List (High Evidence).

6 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430

6 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCF20 were set to

6 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCF20 was added gene: TCF20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCF20 was set to Unknown