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Autoimmune lymphoproliferative syndrome with defective apoptosis
Gene: FAS
FAS (Fas cell surface death receptor)
EnsemblGeneIds (GRCh38): ENSG00000026103
EnsemblGeneIds (GRCh37): ENSG00000026103
OMIM: 134637, Gene2Phenotype
FAS is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000026103
EnsemblGeneIds (GRCh37): ENSG00000026103
OMIM: 134637, Gene2Phenotype
FAS is in 8 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #601859) and the OMIM record was last accessed on 17 December 2025.Created: 17 Dec 2025, 9:57 p.m. | Last Modified: 17 Dec 2025, 9:57 p.m.
Panel Version: 1.2
Eleanor Williams (Genomics England Curator)
FAS has been added to the panel for the clinical indication 'R19 Autoimmune lymphoproliferative syndrome with defective apoptosis' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 14 Jan 2023, 9:40 p.m. | Last Modified: 14 Jan 2023, 9:40 p.m.
Panel Version: 0.3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Autoimmune lymphoproliferative syndrome, OMIM:601859
- autoimmune lymphoproliferative syndrome type 1, MONDO:0011158
- OMIM
- 134637
- Clinvar variants
- Variants in FAS
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Autoimmune lymphoproliferative syndrome with defective apoptosis
- Haematological malignancies cancer susceptibility
- Monogenic hearing loss
- Fetal anomalies
- COVID-19 research
History Filter Activity
17 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: FAS were changed from to Autoimmune lymphoproliferative syndrome, OMIM:601859; autoimmune lymphoproliferative syndrome type 1, MONDO:0011158
14 Jan 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: FAS was added gene: FAS was added to Autoimmune lymphoproliferative syndrome with defective apoptosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal