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BabyScreen+ newborn screening
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.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T cell levels, TRECs.
Created: 27 Mar 2023, 1:01 a.m. | Last Modified: 27 Mar 2023, 1:01 a.m.

Panel Version: 0.2104

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 dominant, MIM#t 618806

Publications

Created: 27 Mar 2023, 1:01 a.m.
Last Modified: 27 Mar 2023, 1:01 a.m.
Panel version: 0.2104

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene
BeginNGS

Phenotypes

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

Tags

treatable immunological

OMIM

Clinvar variants

Variants in FOXN1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Mar 2023, 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).

27 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXN1 were changed from Congenital alopecia with T-cell immunodeficiency; T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806 to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806

27 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXN1 were set to

27 Mar 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Mar 2023, 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).

27 Mar 2023, Gel status: 1

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FOXN1. Tag immunological tag was added to gene: FOXN1.

18 Sep 2022, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Red was added to FOXN1. Source BabySeq Category C gene was added to FOXN1. Mode of inheritance for gene FOXN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital alopecia with T-cell immunodeficiency for gene: FOXN1 Rating Changed from Green List (high evidence) to Red List (low evidence)

18 Sep 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 gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806