FOXN1 Chromosome 17
Forkhead box N1
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What This Gene Does
Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000109101
Associated Conditions (15)
T-cell immunodeficiency
congenital alopecia
and nail dystrophy
FOXN1-related disorder
T-cell lymphopenia
infantile
with or without nail dystrophy
autosomal dominant
Inborn genetic diseases
Severe combined immunodeficiency disease
T-CELL LYMPHOPENIA
INFANTILE
WITHOUT NAIL DYSTROPHY
AUTOSOMAL DOMINANT
T-lymphocyte deficiency
Key Variants
RS137872361
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS138295148
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS139218809
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS146694795
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS148006498
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS150671729
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS181483148
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS184956155
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS185748978
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS202144980
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS367793349
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
RS369425799
Conflicting classifications of pathogenicity
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137872361 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS138295148 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS139218809 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS146694795 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS148006498 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS150671729 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS181483148 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS184956155 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS185748978 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS202144980 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS367793349 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS369425799 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS371414972 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS373908977 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS375002692 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS553583507 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS575898161 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS62640040 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS747825809 | Health Risk | Conflicting classifications of pathogenicity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1057524466 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1064795660 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1064796115 | Health Risk | Likely pathogenic | T-cell lymphopenia, infantile, with or without nail dystrophy |
| RS1161194345 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1406320425 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1567882296 | Health Risk | Likely pathogenic | — |
| RS1567886959 | Health Risk | Likely pathogenic | — |
| RS1597566470 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1597567985 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1597568117 | Health Risk | Likely pathogenic | T-cell lymphopenia, infantile, with or without nail dystrophy |
| RS2151491863 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151497970 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2151499024 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS2508429713 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS568219000 | Health Risk | Likely pathogenic | — |
| RS771407322 | Health Risk | Likely pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS886043619 | Health Risk | Likely pathogenic | — |
| RS104894562 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1055368099 | Health Risk | Pathogenic | — |
| RS1064793129 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1064796227 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1169577591 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1223585973 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1288977950 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1438890364 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1567887558 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1597552140 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1597558200 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1597566356 | Health Risk | Pathogenic | T-lymphocyte deficiency, T-cell immunodeficiency, congenital alopecia |
| RS1597566699 | Health Risk | Pathogenic | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| RS1597566726 | Health Risk | Pathogenic | T-lymphocyte deficiency, T-cell immunodeficiency, congenital alopecia |