1. Panels
  2. Disorders of immune dysregulation
  3. FADD
STRs in panel
Prev Next
Regions in panel
Prev Next

Disorders of immune dysregulation

Gene: FADD

Green List (high evidence)
FADD (Fas associated via death domain)
EnsemblGeneIds (GRCh38): ENSG00000168040
EnsemblGeneIds (GRCh37): ENSG00000168040
OMIM: 602457, Gene2Phenotype
FADD is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 families reported so far. 2 apparently unrelated consanguineous Pakistani families with autoimmune lymphoproliferative syndrome both segregating homozygous p.Cys105Trp. A single compound het case with p.Cys105Arg and a frameshift variant. Also, FADD deficient mouse models support a role in immunodeficiency. Null mice are embryonic lethal.
Created: 20 Apr 2022, 12:11 a.m. | Last Modified: 20 Apr 2022, 12:11 a.m.
Panel Version: 0.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FADD-related immunodeficiency MONDO:0013408

Publications

Created: 20 Apr 2022, 12:11 a.m.
Last Modified: 20 Apr 2022, 12:11 a.m.
Panel version: 0.129

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • FADD-related immunodeficiency MONDO:0013408
OMIM
602457
Clinvar variants
Variants in FADD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fadd has been classified as Green List (High Evidence).

20 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408

20 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FADD were set to

20 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FADD was added gene: FADD was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: FADD was set to Unknown