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  2. Disorders of immune dysregulation
  3. FAAP24
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Disorders of immune dysregulation

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Disputed gene-disease association by the Primary Immune Regulatory Disorders GCEP (https://search.clinicalgenome.org/CCID:008245)
Created: 16 Nov 2024, 3:07 a.m. | Last Modified: 16 Nov 2024, 3:07 a.m.
Panel Version: 0.203
Created: 16 Nov 2024, 3:07 a.m.
Last Modified: 16 Nov 2024, 3:07 a.m.
Panel version: 0.203

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single sib pair with homozygous missense variant, some functional data.
Sources: Expert list
Created: 5 Apr 2020, 2:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related

Publications

Created: 5 Apr 2020, 2:43 a.m.

Panel version: 0.182

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
OMIM
610884
Clinvar variants
Variants in FAAP24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

16 Oct 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAAP24 were changed from EBV infection-driven lymphoproliferative disease to Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAAP24 was added gene: FAAP24 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP24 were set to 27473539 Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease Review for gene: FAAP24 was set to RED