Combined Immunodeficiency
Gene: ZBTB24

ZBTB24 (zinc finger and BTB domain containing 24)
EnsemblGeneIds (GRCh38): ENSG00000112365
EnsemblGeneIds (GRCh37): ENSG00000112365
OMIM: 614064, Gene2Phenotype
ZBTB24 is in 11 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Over 40 individuals have been reported with ZBTB24 variants resulting in ICF2; two mouse models

Over 25 unique homologous and compound heterozygous (del, dup, nonsense, missense) variants resulting in a premature stop codon have been reported.

The majority of individuals have all presented with agammaglobulinemia or hypogammaglobulinemia, facial anomalies, motor development delay and Centromeric instability.
Created: 17 Aug 2021, 5:30 a.m. | Last Modified: 17 Aug 2021, 5:30 a.m.

Panel Version: 0.328

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069; Facial dysmorphic features; developmental delay; macroglossia; bacterial/opportunistic infections; malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia or agammaglobulinaemia; variable antibody deficiency

Publications

Created: 17 Aug 2021, 5:30 a.m.
Last Modified: 17 Aug 2021, 5:30 a.m.
Panel version: 0.328

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069
Facial dysmorphic features
developmental delay
macroglossia
bacterial/opportunistic infections
malabsorption
cytopaenia
malignancies
multiradial configurations of chromosomes 1, 9, 16
Hypogammaglobulinaemia or agammaglobulinaemia
variable antibody deficiency

OMIM

614064

Clinvar variants

Variants in ZBTB24

Penetrance

None

Publications

Panels with this gene