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  3. ZBTB24
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BabyScreen+ newborn screening

Gene: ZBTB24

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

We have included ICF1; however, note that ICF2 individuals more commonly have ID as part of the phenotype.
Created: 9 Mar 2023, 6:39 a.m. | Last Modified: 9 Mar 2023, 6:39 a.m.
Panel Version: 0.1953

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069

Created: 9 Mar 2023, 6:39 a.m.
Last Modified: 9 Mar 2023, 6:39 a.m.
Panel version: 0.1953

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

INfant onset
Agammaglobulinemia, facial anomalies, and mental retardation. Facial anomalies included broad, flat nasal bridge, hypertelorism, and epicanthal folds.
Treat immunoglobulin and bone marrow transplant however, this only treats the immune deficiency
Consider exclusion due to untreatable ID phenotype?
Sources: Expert list
Created: 9 Mar 2023, 2:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069

Publications

Created: 9 Mar 2023, 2:18 a.m.

Panel version: 0.1952

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069
Tags
treatable immunological
OMIM
614064
Clinvar variants
Variants in ZBTB24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb24 has been classified as Amber List (Moderate Evidence).

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zbtb24 has been classified as Amber List (Moderate Evidence).

9 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ZBTB24. Tag immunological tag was added to gene: ZBTB24.

9 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: ZBTB24 was added gene: ZBTB24 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to PMID: 28128455, 21906047, 21596365, 23486536 Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 Review for gene: ZBTB24 was set to AMBER