Severe Combined Immunodeficiency (absent T present B cells)
Gene: FOXN1EnsemblGeneIds (GRCh38): ENSG00000109101
EnsemblGeneIds (GRCh37): ENSG00000109101
OMIM: 600838, Gene2Phenotype
FOXN1 is in 9 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: On IUIS gene list (PMID: 32048120)Created: 18 Mar 2021, 1:36 a.m. | Last Modified: 18 Mar 2021, 1:36 a.m.
Panel Version: 0.22
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 6 Apr 2020, 4:46 a.m. | Last Modified: 6 Apr 2020, 4:46 a.m.
Panel Version: 0.100
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 dominan, MIM#t 618806
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806
- OMIM
- 600838
- Clinvar variants
- Variants in FOXN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: foxn1 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: FOXN1 were set to 31447097; 18339010; 10206641
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: FOXN1 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: foxn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: foxn1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FOXN1 was added gene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert list 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, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806