1. Panels
  2. BabyScreen+ newborn screening
  3. TCF3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

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

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

Childhood onset, immunological disorder

Treatment: replacement immunoglobulin treatment

Non-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Created: 20 Dec 2022, 2:55 a.m. | Last Modified: 20 Dec 2022, 2:55 a.m.
Panel Version: 0.1539

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 20 Dec 2022, 2:55 a.m.
Last Modified: 20 Dec 2022, 2:55 a.m.
Panel version: 0.1539

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
  • Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Tags
treatable immunological
OMIM
147141
Clinvar variants
Variants in TCF3
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TCF3. Tag immunological tag was added to gene: TCF3.

20 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

20 Dec 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

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

20 Dec 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: TCF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCF3 was added gene: TCF3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCF3 were set to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941