Autoimmune Lymphoproliferative Syndrome

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

Ain Roesley (Victorian Clinical Genetics Services)

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.
Sources: Literature
Created: 22 Nov 2024, 4:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FADD-related immunodeficiency MONDO:0013408

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • FADD-related immunodeficiency MONDO:0013408
OMIM
602457
Clinvar variants
Variants in FADD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

22 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

22 Nov 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: FADD was added gene: FADD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: FADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FADD were set to 21109225; 25794656; 32350755; 32971525 Phenotypes for gene: FADD were set to FADD-related immunodeficiency MONDO:0013408 Review for gene: FADD was set to GREEN gene: FADD was marked as current diagnostic