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  3. FOXI3
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: FOXI3

Amber List (moderate evidence)
FOXI3 (forkhead box I3)
EnsemblGeneIds (GRCh38): ENSG00000214336
EnsemblGeneIds (GRCh37): ENSG00000214336
OMIM: 612351, Gene2Phenotype
FOXI3 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Boaz Palterer, there are two unrelated families reported with monoallelic FOXI3 variant. However, the variant was inherited from apparently unaffected father in patient 2, which shows reduced penetrance. In addition, evidence from mouse model shows that FOXI3 is involved in thymus development. Hence, this gene should be rated amber.
Created: 5 Jan 2024, 10:47 p.m. | Last Modified: 5 Jan 2024, 10:47 p.m.
Panel Version: 4.156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Jan 2024, 10:17 p.m.
Last Modified: 5 Jan 2024, 10:17 p.m.
Panel version: 4.156

Boaz Palterer (University of Florence)

I don't know

Ghosh et al. described 2 unrelated patients with T cell lymphopenia, positive TREC screening and thymic hypoplasia with deleterious FOXI3 variants. FOXI3 was demonstrated in mice models to be involved in thymic development.
Sources: Literature
Created: 25 Aug 2022, 11:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
T-cell lymphopenia; low TREC; thymic hypoplasia

Publications

Created: 25 Aug 2022, 11:29 a.m.

Panel version: 2.573

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • T-cell lymphopenia
  • low TREC
  • thymic hypoplasia
OMIM
612351
Clinvar variants
Variants in FOXI3
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

5 Jan 2024, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

25 Aug 2022, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: FOXI3 was added gene: FOXI3 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXI3 were set to 35987349 Phenotypes for gene: FOXI3 were set to T-cell lymphopenia; low TREC; thymic hypoplasia Penetrance for gene: FOXI3 were set to Incomplete Review for gene: FOXI3 was set to AMBER