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Gene: FOXN1

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The FOXN1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is the AR T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705, due to loss-of-function variants.

There is a gene dosage effect on thymic function. Individuals with biallelic pathogenic variants have T-B+NK+ severe combined immunodeficiency (SCID) with/without congenital alopecia and/or nail dystrophy. Onset at birth or early infancy and some patients may have an early death (OMIM).

However, heterozygous individuals may present variable phenotypes from asymptomatic with no infections, to hair or nail anomalies and/or infections.
Created: 8 Jan 2025, 11:50 p.m. | Last Modified: 8 Jan 2025, 11:50 p.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705

Publications

Created: 8 Jan 2025, 11:50 p.m.
Last Modified: 8 Jan 2025, 11:50 p.m.
Panel version: 1.992

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705
OMIM
600838
Clinvar variants
Variants in FOXN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxn1 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXN1 were changed from T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXN1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) for gene: FOXN1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXN1 was added gene: FOXN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)