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Gene: FASLGComment on mode of inheritance: Changing the MOI to Both mono and biallelic as there are cases reported with both modes of inheritance, although a stronger phenotype in the case of homozygous variants. See the review on https://panelapp.genomicsengland.co.uk/panels/398/gene/FASLG/ for more detail.Created: 19 Apr 2022, 3:32 p.m. | Last Modified: 19 Apr 2022, 3:32 p.m.
Panel Version: 1.124
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): FASLG .PanelApp HGNC gene symbol check: FASLG . IUIS Disease: ALPS-FASLG . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)Created: 2 Jul 2018, 10:35 a.m.
Comment on mode of inheritance: Corrected MOI from external reviewCreated: 20 Jun 2018, 2:37 p.m.
Germline mutations in the FAS (10q24.1), FASLG (1q23), or CASP10 (2q33-q34) genes are known to be associated with ALPSCreated: 18 Jun 2018, 2:23 p.m.
Comment on list classification: changed from Amber to GreenCreated: 18 Jun 2018, 2:22 p.m.
Comment on publications: Added publications to support phenotype.Created: 18 Jun 2018, 2:16 p.m.
Comment on phenotypes: added OMIM MIMidCreated: 18 Jun 2018, 2:09 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: FASL (CD178) (ALPS IB), PanelApp HGNC gene symbol check: FASLG, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Autoimmune lymphoproliferative syndrome (ALPS) / Autoimmune lymphoproliferative syndrome (ALPS)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: FASLG, GRID_Gene_Symbol: FASLG, GRID_Transcript_ENS_Community submitted: ENST00000367721, GRID_Transcript_RefSeq: NM_000639.1, GRID_Transcript_ENS_used_on_Production: ENST00000367721Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance for gene: FASLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
gene: FASLG was added gene: FASLG was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: FASLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASLG were set to 17605793; 8787672; 20301287; 27848183 Phenotypes for gene: FASLG were set to Autoimmune lymphoproliferative syndrome, type IB, 601859; Diseases of Immune Dysregulation; Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG); Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated; Autoimmune lymphoproliferative syndrome (ALPS)