Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FOXI3
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
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: LiteratureCreated: 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
Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: foxi3 has been classified as Amber List (Moderate Evidence).
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