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COVID-19 research

Gene: ZBTB24

Green List (high evidence)

ZBTB24 (zinc finger and BTB domain containing 24)
EnsemblGeneIds (GRCh38): ENSG00000112365
EnsemblGeneIds (GRCh37): ENSG00000112365
OMIM: 614064, Gene2Phenotype
ZBTB24 is in 5 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added MIM number to Immunodeficiency-centromeric instability-facial anomalies syndrome-2
Created: 19 Jun 2018, 9:58 p.m.
Comment on publications: Added publications reporting variants in this gene
Created: 19 Jun 2018, 9:57 p.m.
Comment on list classification: Rating this gene green as there are plausible disease-causing mutations in the ZBTB24 gene in more than 3 families
Created: 19 Jun 2018, 9:56 p.m.
In OMIM this gene is associated with Immunodeficiency-centromeric instability-facial anomalies syndrome 2. Evidence from the association come from: de Greef et al. (2011) (PMID: 21596365) who identified a homozygous truncating mutation in the ZBTB24 gene (R320X) of one patient born of consanguineous parents. Homozygous ZBTB24 mutations were subsequently identified by Sanger sequencing in 3 of the 4 other consanguineous families, as well as in an additional consanguineous family (S16X and R457X). Two affected sibs of a nonconsanguineous family were compound heterozygous for ZBTB24 mutations (S278X and C408G). All but 1 of the mutations created a premature stop codon. Chouery et al. (2012) (PMID: 21906047) identified a homozygous 2-bp deletion in the ZBTB24 gene (396delTA; 614064.0006) in 3 Lebanese brothers with ICF2. The molecular studies indicated a loss-of-function effect.
Created: 19 Jun 2018, 9:56 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 10:18 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ZBTB24, PanelApp HGNC gene symbol check: ZBTB24, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / DNA-breakage disorder / Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ZBTB24, GRID_Gene_Symbol: ZBTB24, GRID_Transcript_ENS_Community submitted: ENST00000230122, GRID_Transcript_RefSeq: NM_014797.2, GRID_Transcript_ENS_used_on_Production: ENST00000230122
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069
  • Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
OMIM
614064
Clinvar variants
Variants in ZBTB24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: ZBTB24 was added gene: ZBTB24 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to 21906047; 21596365 Phenotypes for gene: ZBTB24 were set to Combined immunodeficiencies with associated or syndromic features; Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069; Immunodeficiency centromeric instability facial anomalies syndrome (ICF); Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16