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Primary immunodeficiency

Gene: FAAP24

Red List (low evidence)

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

3 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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

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
  • Other
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Diseases of Immune Dysregulation
  • EBV infection-driven lymphoproliferative disease
OMIM
610884
Clinvar variants
Variants in FAAP24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 1

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to FAAP24. Publications for gene FAAP24 were updated from 32048120; 27473539; 32086639 to 32086639; 17289582; 27473539; 32048120

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: faap24 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FAAP24 were set to 27473539

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FAAP24 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene FAAP24 were set to EBV infection-driven lymphoproliferative disease, Diseases of Immune Dysregulation

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

FAAP24 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

FAAP24 was created by Louise Daugherty