Autoimmune Lymphoproliferative Syndrome
Gene: FADDEnsemblGeneIds (GRCh38): ENSG00000168040
EnsemblGeneIds (GRCh37): ENSG00000168040
OMIM: 602457, Gene2Phenotype
FADD is in 3 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: fadd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: fadd has been classified as Green List (High Evidence).
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