Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FAAP24
Not associated with a phenotype in OMIM.
PMID: 17289582 - Ciccia et al 2007 - report that FAAP24 (C19ORF40) is a component of the Fanconi anemia (FA) core complex and interacts with the C-terminal region of FANCM. FAAP24 is required for normal levels of FANCD2 monoubiquitylation following DNA damage.
PMID: 27473539 - Daschkey et al 2016 - report a homozygous missense mutation in FAAP24 (cC635T, pT212M) in two siblings of a consanguineous Turkish family who died from an EBV-associated lymphoproliferative disease after infection with a variant EBV strain, expressing a previously unknown EBNA2 allele.Created: 3 Nov 2020, 8:16 p.m. | Last Modified: 3 Nov 2020, 8:16 p.m.
Panel Version: 2.369
The following PubMed IDs were added to gene FAAP24 (OMIM gene MIM#610884): 17289582;27473539. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EBV-associated lymphoproliferative disease
Publications
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 reviewCreated: 6 Jul 2018, 12:07 p.m.
2 siblings in 1 kindred, unusual strain of EBVCreated: 29 Jun 2018, 8:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EBV lymphoproliferative disease
Publications
Source Other was added to FAAP24. Publications for gene FAAP24 were updated from 32048120; 27473539; 32086639 to 32086639; 17289582; 27473539; 32048120
Source IUIS Classification December 2019 was added to FAAP24. Added phenotypes Diseases of Immune Dysregulation; EBV infection-driven lymphoproliferative disease for gene: FAAP24 Publications for gene FAAP24 were updated from 27473539 to 32048120; 27473539; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: faap24 has been classified as Red List (Low Evidence).
Publications for gene: FAAP24 were set to 27473539
Mode of inheritance for gene: FAAP24 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene FAAP24 were set to EBV infection-driven lymphoproliferative disease, Diseases of Immune Dysregulation
FAAP24 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
FAAP24 was created by Louise Daugherty