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  2. Common Variable Immunodeficiency
  3. TCF3
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Common Variable Immunodeficiency

Gene: TCF3

Green List (high evidence)
TCF3 (transcription factor 3)
EnsemblGeneIds (GRCh38): ENSG00000071564
EnsemblGeneIds (GRCh37): ENSG00000071564
OMIM: 147141, Gene2Phenotype
TCF3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported with mono-allelic disease but single recurrent variant, and two families with bi-allelic disease. Two mouse models.
Created: 9 Aug 2021, 1:43 a.m. | Last Modified: 9 Aug 2021, 1:43 a.m.
Panel Version: 0.124

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824

Publications

Created: 9 Aug 2021, 1:43 a.m.
Last Modified: 9 Aug 2021, 1:43 a.m.
Panel version: 1.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
  • Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
OMIM
147141
Clinvar variants
Variants in TCF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824

9 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcf3 has been classified as Green List (High Evidence).

9 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCF3 were changed from to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941

9 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCF3 were set to

9 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TCF3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCF3 was added gene: TCF3 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TCF3 was set to Unknown