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Intellectual disability

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 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added PMID:23486536 a large cohort study comprising 44 patients with a diagnosis of ICF2
Created: 16 Jul 2018, 12:51 p.m.
Comment on publications: additional publication PMID: 22786748 (2012) describes a patient carrying a homozygous mutation of the ZBTB24 gene, the patient presented with intellectual disability, multiple café-au-lait spots, and a large cerebral arachnoidal cyst, however although there were laboratory signs of impaired immune function.
Created: 16 Jul 2018, 12:42 p.m.
Comment on list classification: new Green gene added by external expert review, who notes that five individuals from unrelated families have been reported in the literature with Immunodeficiency-centromeric instability-facial anomalies syndrome 2, ID is part of the phenotype and was reported in 4 of the 5 unrelated affected cases (7 cases with ID in total including siblings)
Created: 16 Jul 2018, 12:38 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five individuals from unrelated families reported in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 3:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 2

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069
  • intellectual disability
OMIM
614064
Clinvar variants
Variants in ZBTB24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ZBTB24.

16 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ZBTB24 were set to 21596365; 22786748; 23486536

16 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069; intellectual disability

16 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ZBTB24 were set to 21596365; 22786748

16 Jul 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).

16 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069; intelectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ZBTB24 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ZBTB24 was created by Zornitza Stark