Disorders of immune dysregulation
Gene: FASLG
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
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
Gene: faslg has been classified as Green List (High Evidence).
Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
Publications for gene: FASLG were set to
Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: FASLG was added gene: FASLG was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: FASLG was set to Unknown