Monogenic hearing loss
Gene: FAS
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#601859:{Autoimmune lymphoproliferative syndrome}[Hepatomegaly; Splenomegaly; UrticariaVasculitis rash; Autoimmune hemolytic anemiaIron deficiency anemiaAutoimmune thrombocytopeniaAutoimmune neutropeniaEosinophilia; Defective lymphocyte apoptosisChronic noninfectious lymphadenopathyIncreased number of peripheral CD3+ T cellsIncreased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptorsIncreased proportion of HLA DR+ and CD57+ T cellsReduced delayed hypersensitivityLymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells; Increased risk of malignant lymphoma; Increased levels of IgGIncreased levels of IgAIncreased levels of IgMDirect Coombs positivePlatelet antibody positiveNeutrophil antibody positivePhospholipid antibody positiveSmooth muscle antibody positiveRheumatoid factor positiveAntinuclear antibody positiveIncreased interleukin 10Elevated levels of vitamin B12]; #:Squamous cell carcinoma, burn scar-related, somatic
Publications
FAS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert