FASLG

• Haploinsufficiency score: Gene associated with autosomal recessive phenotype
• Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
• Haploinsufficiency Phenotype: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS

Haploinsufficiency phenotype comments:

Variants in FASLG have been reported in individuals with autoimmune lymphoproliferative syndrome, or ALPS. Individuals have been reported with ALPS or ALPS-like features and heterozygous variants in FASLG; however, the proposed mechanism for this association is dominant negative (see PMID: 17605793). Loss-of-function variants in FASLG associated with ALPS have been inherited in an autosomal recessive manner; it is believed that AR variants in FASLG result in a more severe phenotype (see PMIDs: 22857792, 25451160).

• Triplosensitivity score: 0
• Strength of Evidence (disclaimer): No evidence for dosage pathogenicity