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  3. FAS
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Fetal anomalies

Gene: FAS

Green List (high evidence)
FAS (Fas cell surface death receptor)
EnsemblGeneIds (GRCh38): ENSG00000026103
EnsemblGeneIds (GRCh37): ENSG00000026103
OMIM: 134637, Gene2Phenotype
FAS is in 8 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Monoallelic and biallelic variants associated with autoimmune lymphoproliferative syndrome (ALPS), with biallelic variants associated with severe lymphoproliferation that occurs before, at, or shortly after birth. One patient with homozygous FAS deletion associated with prenatal onset of massive lymphoproliferation, which involved the spleen, the liver, and the intrathoracic and abdominal lymph nodes (PMID: 8806292). Homozygous splice acceptor variant with antenatal features in one case (PMID: 9533447). Report of compound heterozygous missense/inframe variants in a case with fetal onset of ALPS, presenting neonatally with jaundice, petechiae, abdominal distension, hepatosplenomegaly (no information on prenatal scanning) (PMID: 39384643).More limited evidence that monoallelic variants can also present prenatally. Presentation at 36 wk gestation with hepatosplenomegaly, mild cervical lymphadenopathy, cardiomegaly, polyhydramnios and anemia in a fetus with a heterozygous variant; sibling and father also affected (PMID: 22983578).
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autoimmune lymphoproliferative syndrome, type IA, MIM#601859

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IA, OMIM:601859
OMIM
134637
Clinvar variants
Variants in FAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: FAS. Tag Q1_25_ promote_green was removed from gene: FAS.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to FAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: FAS. Tag Q1_25_ promote_green tag was added to gene: FAS.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FAS was added gene: FAS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FAS were set to 39384643 Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, OMIM:601859