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COVID-19 research

Gene: FAS

Green List (high evidence)

FAS (Fas cell surface death receptor)
EnsemblGeneIds (GRCh38): ENSG00000026103
EnsemblGeneIds (GRCh37): ENSG00000026103
OMIM: 134637, Gene2Phenotype
FAS is in 6 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TNFRSF6 .PanelApp HGNC gene symbol check: FAS . IUIS Disease: ALPS-FAS . IUIS Inheritance: AD or AR .T cells: N/A, .B cells: Normal, low memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias
Created: 18 Jun 2018, 2:05 p.m.
Comment on list classification: Changed rating from Amber to Green, enough evidence in the literature to support FAS and Autoimmune lymphoproliferative syndrome
Created: 18 Jun 2018, 2:05 p.m.
Comment on publications: added recent publications 28668589; 26258116
Created: 18 Jun 2018, 2:03 p.m.
Comment on mode of inheritance: both monoallelic and biallelic MOI has been reported for Autoimmune lymphoproliferative syndrome, type IA. ALPS is most often transmitted in an autosomal dominant manner. However, autosomal recessive inheritance of ALPS1A due to homozygous or compound heterozygous mutations in the FAS gene has been described. Both germline and somatic mutations in the FAS gene have been identified in patients with ALPS type IA. A subset of patients may have a heterozygous germline mutation combined with a somatic mutation, resulting in a '2-hit' disease mechanism
Created: 18 Jun 2018, 1:53 p.m.
Comment on publications: added publications to support variants of FAS causing Autoimmune lymphoproliferative syndrome
Created: 18 Jun 2018, 1:41 p.m.
Comment on phenotypes: added OMIM MIMid and Orphanet
Created: 18 Jun 2018, 1:34 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD95 (germline - ALPS IA), PanelApp HGNC gene symbol check: FAS, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / Autoimmune lymphoproliferative syndrome (ALPS); Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / Autoimmune lymphoproliferative syndrome (ALPS); Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / Autoimmune lymphoproliferative syndrome (ALPS)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: FAS, GRID_Gene_Symbol: FAS, GRID_Transcript_ENS_Community submitted: ENST00000355740, GRID_Transcript_RefSeq: NM_000043.4, GRID_Transcript_ENS_used_on_Production: ENST00000355740
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12
  • Diseases of Immune Dysregulation
  • Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS)
  • Autoimmune lymphoproliferative syndrome type IA, 601859
  • Autoimmune lymphoproliferative syndrome (ALPS)
OMIM
134637
Clinvar variants
Variants in FAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FAS was added gene: FAS was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FAS were set to 10709732; 15459302; 26258116; 8929361; 9927496; 7540117; 28668589; 9028321; 9821419 Phenotypes for gene: FAS were set to Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12; Diseases of Immune Dysregulation; Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS); Autoimmune lymphoproliferative syndrome type IA, 601859; Autoimmune lymphoproliferative syndrome (ALPS)