Disorders of immune dysregulation
Gene: FASLG

FASLG (Fas ligand)
EnsemblGeneIds (GRCh38): ENSG00000117560
EnsemblGeneIds (GRCh37): ENSG00000117560
OMIM: 134638, Gene2Phenotype
FASLG is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sufficient evidence for AR gene-disease association. Limited evidence for AD gene-disease association
PMID: 22857792, 16627752, 26334989, 25451160 - 4 unrelated ALPS families reported with biallelic variants with a loss of function mechanism
PMID: 11457890, 19794494 - supporting deficient mouse models
PMID: 8787672, 17605793 - a single case (p.Met158_Glu185del) and a single family (p.Arg156Gly) reported with heterozygous variants, supporting dominant inheritance of dominant-negative variants. Another case reported with a rare VUS (p.Met86Val) that didn't alter protein function.
Created: 24 Apr 2022, 6:32 a.m. | Last Modified: 24 Apr 2022, 6:32 a.m.

Panel Version: 0.132

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autoimmune lymphoproliferative syndrome MONDO:0017979

Publications

Created: 24 Apr 2022, 6:32 a.m.
Last Modified: 24 Apr 2022, 6:32 a.m.
Panel version: 0.132

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Sufficient evidence for AR gene-disease association. Limited evidence for AD gene-disease association
PMID: 22857792, 16627752, 26334989, 25451160 - 4 unrelated ALPS families reported with biallelic variants with a loss of function mechanism
PMID: 11457890, 19794494 - supporting deficient mouse models
PMID: 8787672, 17605793 - a single case (p.Met158_Glu185del) and a single family (p.Arg156Gly) reported with heterozygous variants, supporting dominant inheritance of dominant-negative variants. Another case reported with a rare VUS (p.Met86Val) that didn't alter protein function.
Created: 20 Apr 2022, 6:42 a.m. | Last Modified: 20 Apr 2022, 6:42 a.m.

Panel Version: 0.13112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autoimmune lymphoproliferative syndrome MONDO:0017979

Publications

Created: 20 Apr 2022, 6:42 a.m.
Last Modified: 20 Apr 2022, 6:42 a.m.
Panel version: Imported from Mendeliome panel version 0.13112

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

autoimmune lymphoproliferative syndrome MONDO:0017979

OMIM

134638

Clinvar variants

Variants in FASLG

Penetrance

None

Publications

Panels with this gene