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  2. Autoimmune Lymphoproliferative Syndrome
  3. FAS
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Autoimmune Lymphoproliferative Syndrome

Gene: FAS

Green List (high evidence)
FAS (Fas cell surface death receptor)
EnsemblGeneIds (GRCh38): ENSG00000026103
EnsemblGeneIds (GRCh37): ENSG00000026103
OMIM: 134637, Gene2Phenotype
FAS is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established association
Sources: Literature
Created: 22 Nov 2024, 4:40 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Autoimmune lymphoproliferative syndrome, type IA MIM#601859

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

Created: 22 Nov 2024, 4:40 a.m.

Panel version: 0.1

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IA MIM#601859
OMIM
134637
Clinvar variants
Variants in FAS
Penetrance
None
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: fas 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: fas has been classified as Green List (High Evidence).

22 Nov 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: FAS was added gene: FAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA MIM#601859 Review for gene: FAS was set to GREEN gene: FAS was marked as current diagnostic