ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

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