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Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Classified gene: ZBTB24 as Green List (high evidence)
Chromosome Breakage Disorders v0.168 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.167 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 23486536
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Review for gene: ZBTB24 was set to GREEN
Added comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and intellectual disability. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohaemagglutinin stimulation.

20 unrelated families reported.
Sources: Expert Review