ClinGen Dosage Sensitivity Curation Page
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FASLG
- Curation Status: Complete
- id: ISCA-3940
- Date last evaluated: 2016-08-25
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about FASLG at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/356
- OMIM: https://omim.org/entry/152700
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1108/?term=FASLG
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.612
- 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