Combined Immunodeficiency

Gene: FOXI3

Amber List (moderate evidence)

FOXI3 (forkhead box I3)
EnsemblGeneIds (GRCh38): ENSG00000214336
EnsemblGeneIds (GRCh37): ENSG00000214336
OMIM: 612351, Gene2Phenotype
FOXI3 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 cases with loss of function variants in FOXI3 that resulted in abnormal TRECs and T cell lymphopenia. Incomplete penetrance in both families (4 unaffected individuals with variant & 2 affected with variant). Also, 5 families with overlapping microdeletions at chromosome 2p11.2 that spanned FOXI3 with similar immunophenotypes that included selective T cell lymphopenia. Also, supporting mouse models. However, due to the incomplete penetrance the gene-disease association remains uncertain.
Sources: Expert list
Created: 10 Nov 2024, 3:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
thymic dysplasia MONDO:0004195

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • thymic dysplasia MONDO:0004195
OMIM
612351
Clinvar variants
Variants in FOXI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: foxi3 has been classified as Amber List (Moderate Evidence).

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: foxi3 has been classified as Amber List (Moderate Evidence).

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FOXI3 was added gene: FOXI3 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXI3 were set to 35987349; 31600545 Phenotypes for gene: FOXI3 were set to thymic dysplasia MONDO:0004195 Review for gene: FOXI3 was set to AMBER