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Hearing loss

Gene: FAS

Red List (low evidence)

FAS (Fas cell surface death receptor)
EnsemblGeneIds (GRCh38): ENSG00000026103
EnsemblGeneIds (GRCh37): ENSG00000026103
OMIM: 134637, Gene2Phenotype
FAS is in 4 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FAS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert