Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: FAAP24

Green List (high evidence)

FAAP24 (Fanconi anemia core complex associated protein 24)
EnsemblGeneIds (GRCh38): ENSG00000131944
EnsemblGeneIds (GRCh37): ENSG00000131944
OMIM: 610884, Gene2Phenotype
FAAP24 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): FAAP24 .PanelApp HGNC gene symbol check: FAAP24 . IUIS Disease: FAAP24 deficiency . IUIS Inheritance: AR .T cells: Normal numbers , .B cells: Normal , .IUIS Other affected cells: N/A. IUIS Associated features: EBV infection-driven lymphoproliferative disease. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
Created: 6 Jul 2018, 12:09 p.m.
Comment on publications: Added publications suggested from external expert review
Created: 6 Jul 2018, 12:07 p.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

2 siblings in 1 kindred, unusual strain of EBV
Created: 29 Jun 2018, 8:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EBV lymphoproliferative disease

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • EBV infection-driven lymphoproliferative disease
  • Diseases of Immune Dysregulation
OMIM
610884
Clinvar variants
Variants in FAAP24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to FAAP24. Added phenotypes EBV infection-driven lymphoproliferative disease; Diseases of Immune Dysregulation for gene: FAAP24 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FAAP24 was added gene: FAAP24 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP24 were set to 32086639; 27473539; 32048120 Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease; Diseases of Immune Dysregulation