Nucleotide metabolism disorders

Gene: AICDA

Green List (high evidence)

AICDA (activation induced cytidine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000111732
EnsemblGeneIds (GRCh37): ENSG00000111732
OMIM: 605257, Gene2Phenotype
AICDA is in 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Both AR and AD association classified DEFINITIVE by Antibody Deficiency ClinGen GCEP on 28/08/2024

The presence of an autoimmune disease in affected individuals has only been associated in the recessive form suggesting that AR is more severe compared to AD.

AR: https://search.clinicalgenome.org/CCID:004080
AD: https://search.clinicalgenome.org/CCID:004081
Created: 16 Sep 2024, 2:14 a.m. | Last Modified: 16 Sep 2024, 2:14 a.m.
Panel Version: 1.2013

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
hyper-IgM syndrome type 2 MONDO:0011528

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. Well established gene-disease association.
Created: 14 Aug 2021, 2:02 a.m. | Last Modified: 14 Aug 2021, 2:02 a.m.
Panel Version: 0.8809

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency with hyper-IgM, type 2, MIM# 605258

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hyper-IgM syndrome type 2 MONDO:0011528
  • Disorders of ectonucleotide and nucleic acid metabolism
OMIM
605257
Clinvar variants
Variants in AICDA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AICDA was added gene: AICDA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AICDA were set to 10373455; 21700883; 14962793 Phenotypes for gene: AICDA were set to hyper-IgM syndrome type 2 MONDO:0011528; Disorders of ectonucleotide and nucleic acid metabolism