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Primary immunodeficiency

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • 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
  • Combined immunodeficiencies with associated or syndromic features
OMIM
614064
Clinvar variants
Variants in ZBTB24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ZBTB24.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ZBTB24.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ZBTB24.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ZBTB24 were set to 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, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to ZBTB24. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to ZBTB24. Panel: Primary immunodeficiency disorders

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: zbtb24 has been classified as Green List (High Evidence).

19 Jun 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069; Immunodeficiency centromeric instability facial anomalies syndrome (ICF)

19 Jun 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ZBTB24 were set to 21596365; 21906047

19 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: zbtb24 has been classified as Green List (High Evidence).

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to ZBTB24. Panel: Primary immunodeficiency disorders Phenotypes for gene ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Immunodeficiency centromeric instability facial anomalies syndrome (ICF)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ZBTB24 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ZBTB24 was created by Louise Daugherty