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Mendeliome

Gene: FASLG

Green List (high evidence)

FASLG (Fas ligand)
EnsemblGeneIds (GRCh38): ENSG00000117560
EnsemblGeneIds (GRCh37): ENSG00000117560
OMIM: 134638, Gene2Phenotype
FASLG is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Sufficient evidence for AR gene-disease association. Limited evidence for AD gene-disease association
PMID: 22857792, 16627752, 26334989, 25451160 - 4 unrelated ALPS families reported with biallelic variants with a loss of function mechanism
PMID: 11457890, 19794494 - supporting deficient mouse models
PMID: 8787672, 17605793 - a single case (p.Met158_Glu185del) and a single family (p.Arg156Gly) reported with heterozygous variants, supporting dominant inheritance of dominant-negative variants. Another case reported with a rare VUS (p.Met86Val) that didn't alter protein function.
Created: 20 Apr 2022, 6:42 a.m. | Last Modified: 20 Apr 2022, 6:42 a.m.
Panel Version: 0.13112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autoimmune lymphoproliferative syndrome MONDO:0017979

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autoimmune lymphoproliferative syndrome MONDO:0017979
OMIM
134638
Clinvar variants
Variants in FASLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979

20 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FASLG were set to

20 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FASLG was added gene: FASLG was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FASLG was set to Unknown