Combined Immunodeficiency
Gene: FOXN1

FOXN1 (forkhead box N1)
EnsemblGeneIds (GRCh38): ENSG00000109101
EnsemblGeneIds (GRCh37): ENSG00000109101
OMIM: 600838, Gene2Phenotype
FOXN1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

2020: 47 individuals reported with T-cell lymphopaenia and low TRECs. 21 newborns identified as part of SCID newborn screening had low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cell counts.
Created: 6 Apr 2020, 4:46 a.m. | Last Modified: 6 Apr 2020, 4:46 a.m.

Panel Version: 0.100

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806

Publications

Created: 6 Apr 2020, 4:46 a.m.
Last Modified: 6 Apr 2020, 4:46 a.m.
Panel version: 0.100

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

T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806

OMIM

600838

Clinvar variants

Variants in FOXN1

Penetrance

None

Publications

Panels with this gene