1. Panels
  2. Newborns main panel
  3. FOXN1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: FOXN1

Green List (high evidence)
FOXN1 (forkhead box N1)
EnsemblGeneIds (GRCh38): ENSG00000109101
EnsemblGeneIds (GRCh37): ENSG00000109101
OMIM: 600838, Gene2Phenotype
FOXN1 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50091/
Created: 26 Sep 2024, 12:48 p.m. | Last Modified: 26 Sep 2024, 12:48 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 12:48 p.m.
Last Modified: 26 Sep 2024, 12:48 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
FOXN1 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
semidominant, are we only interested in AR? -> KS: Only interested in AR.
Created: 17 May 2023, 1:51 p.m. | Last Modified: 17 May 2023, 1:51 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:51 p.m.
Last Modified: 17 May 2023, 1:51 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Tags
special_consideration
OMIM
600838
Clinvar variants
Variants in FOXN1
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: FOXN1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: FOXN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy for gene: FOXN1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

15 May 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FOXN1. Mode of inheritance for gene FOXN1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy for gene: FOXN1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to FOXN1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FOXN1 was added gene: FOXN1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal