SCID
Gene: FOXN1

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

4 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
T-B+ SCID, congenital alopecia, nail dystrophy

Publications

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: As there is no consensus amoungst reviewers, this gene has been made amber. It is a confirmed DD gene for Alopecia and T-cell immunodeficiency.
Created: 20 May 2016, 2:17 p.m.

Created: 20 May 2016, 2:16 p.m.

Panel version: 0.34

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

we are now trying to validate one of these but more CID than classic SCID
Created: 12 Jan 2016, 4:09 p.m.

Created: 12 Jan 2016, 4:09 p.m.

Panel version: 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Emory Genetics Laboratory

Phenotypes

T-B+ SCID
T-B+ SCID, congenital alopecia, nail dystrophy

OMIM

600838

Clinvar variants

Variants in FOXN1

Penetrance

Complete

Publications

Panels with this gene