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COVID-19 research

Gene: FADD

Green List (high evidence)

FADD (Fas associated via death domain)
EnsemblGeneIds (GRCh38): ENSG00000168040
EnsemblGeneIds (GRCh37): ENSG00000168040
OMIM: 602457, Gene2Phenotype
FADD is in 4 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
functional hyposplenism; invasive pneumococcal disease; para-infectious encephalopathy and hepatopathy; cardiovascular malformations

Publications

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): FADD .PanelApp HGNC gene symbol check: FADD . IUIS Disease: FADD deficiency . IUIS Inheritance: AR .T cells: Normal numbers, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction. 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 list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 10:22 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 20 Jun 2018, 10:20 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 20 Jun 2018, 10:19 p.m.
Keep Amber until more info on gene and disease association, refer to external expert review
Created: 18 Jun 2018, 1:30 p.m.
Characterized by severe bacterial and viral infections, congenital heart defects and recurrent episodes of fever, liver
dysfunction, and seizures.
Created: 18 Jun 2018, 1:22 p.m.
Comment on publications: FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizure. Bolze et al. (2010) PMID: 21109225 reported 2 sisters and their cousin from a large consanguineous Pakistani pedigree with recurrent infections associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations caused by a 315T-G transversion in exon 2. The mutation segregated with disease in the family and was not found in 282 Pakistani controls. Bolze et al. (2010) concluded that the C105W mutation strongly decreases steady-state protein levels and impairs the interaction of the residual FADD protein with FAS. Analysis of FAS-induced apoptosis in patients' cells confirmed that the C105W mutant impairs apoptotic function both in vitro and in vivo.
Created: 18 Jun 2018, 1:10 p.m.
Comment on mode of inheritance: added MOI
Created: 18 Jun 2018, 1:05 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: FADD, PanelApp HGNC gene symbol check: FADD, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / ALPS-like disease
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: FADD, GRID_Gene_Symbol: FADD, GRID_Transcript_ENS_Community submitted: ENST00000301838, GRID_Transcript_RefSeq: NM_003824.3, GRID_Transcript_ENS_used_on_Production: ENST00000301838
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • para-infectious encephalopathy and hepatopathy
  • Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction
  • Diseases of Immune Dysregulation
  • invasive pneumococcal disease
  • cardiovascular malformations
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759
  • functional hyposplenism
  • ALPS-like disease
OMIM
602457
Clinvar variants
Variants in FADD
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: FADD was added gene: FADD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FADD were set to 21109225; 17656375; 25794656 Phenotypes for gene: FADD were set to para-infectious encephalopathy and hepatopathy; Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction; Diseases of Immune Dysregulation; invasive pneumococcal disease; cardiovascular malformations; Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759; functional hyposplenism; ALPS-like disease