Disorders of immune dysregulation

Gene: FAS

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
autoimmune lymphoproliferative syndrome MONDO:0017979

Well-established gene-disease association. Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterised by non-malignant lymphoproliferation, autoimmune disease, and increased risk of both Hodgkin and non-Hodgkin lymphoma. Both germline and somatic disease-causing variants have been reported. Heterozygous missense variants with a dominant-negative effect demonstrate variable penetrance, but higher higher penetrance than LoF variants. LoF variants behave as recessive variants and require a second hit, either germline or second somatic hit (can also be in other ALPS-related gene).

Created: 20 Apr 2022, 5:32 a.m. | Last Modified: 20 Apr 2022, 5:32 a.m.

Panel Version: 0.13109

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
autoimmune lymphoproliferative syndrome MONDO:0017979

Publications

• 7540117
• 7539157
• 15459302
• 33995372
• 34171534

Variants in this GENE are reported as part of current diagnostic practice