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Intellectual disability

Gene: ZBTB11

Amber List (moderate evidence)
ZBTB11 (zinc finger and BTB domain containing 11)
EnsemblGeneIds (GRCh38): ENSG00000066422
EnsemblGeneIds (GRCh37): ENSG00000066422
ZBTB11 is in 2 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: ZBTB11 was added to the ID panel and rated Amber by Konstantinos Varvagiannis based on literature evidence PMID:29893856. This paper describes 9 individuals from 2 broader consanguineous families all with moderate ID. There is some functional work including zebrafish models.
ZBTB11 is in OMIM based upon this paper, but currently not reported in Gene2Phenotype.
Two families identified, as our guidelines, this will be rated as Amber.
Created: 23 May 2019, 3:23 p.m. | Last Modified: 16 Jul 2019, 10:35 a.m.
Panel Version: 0.200
Created: 23 May 2019, 3:23 p.m.
Last Modified: 16 Jul 2019, 10:35 a.m.
Panel version: Imported from Intellectual disability update May 2019 panel version 0.79

Konstantinos Varvagiannis (Other)

I don't know

Fattahi et al. (PMID: 29893856) report on 9 individuals from 2 broader consanguineous pedigrees with biallelic ZBTB11 mutations.

Features in the first family (from Iran) consisted of moderate ID, microcephaly, ataxic gait, and spasticity with MRI findings of cerebellar atrophy and ventriculomegaly.

Individuals from the second family (from Pakistan) presented with moderate ID and variable features.

Homozygosity for missense ZBTB11 variants, private to each family was shown (NM_014415.3:c.2185C>T / p.H729Y and c.2640T>G / p.H880Q for the first and second family respectively).

As the authors note, ZBTB11 is predicted to be a zinc finger transcriptional regulator and one of the hypotheses emitted suggests possible disruption of DNA binding.

Functional studies performed demonstrated that the mutant proteins were excluded from the nucleolus where the (wt) protein localizes.

Previous zebrafish models (PMID: 28382966) suggested CNS degeneration among other phenotypes in Zbtb11 mutants.

Knockdown of the drosophila ZBTB11-ortholog (CkIIα-i1) resulted in recognizable shrinking of the mushroom body with significant reduction in the number of neurons compared to controls.

Other Zinc Finger and BTB Domain-Containing proteins cause disorders with ID as a prominent feature (eg. ZBTB16, ZBTB20, etc.).

ZBTB11 is not associated with any phenotype in OMIM nor in G2P.

As a result, this gene can be considered for inclusion in this panel probably as amber (2 pedigrees only) or green (given the supportive functional studies).
Sources: Literature
Created: 16 Dec 2018, 1:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Created: 16 Dec 2018, 1:27 p.m.

Panel version: 2.584

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 69, OMIM:618383
Tags
watchlist gene-checked
Clinvar variants
Variants in ZBTB11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: ZBTB11.

3 Oct 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ZBTB11 were changed from Intellectual developmental disorder, autosomal recessive 69, 618383; Intellectual disability to Intellectual developmental disorder, autosomal recessive 69, OMIM:618383

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: ZBTB11.

25 Jul 2019, Gel status: 2

Added New Source, Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review was added to ZBTB11. Source Expert Review Amber was added to ZBTB11. Added phenotypes Intellectual developmental disorder, autosomal recessive 69, 618383 for gene: ZBTB11 Rating Changed from No List (delete) to Amber List (moderate evidence)

16 Dec 2018, Gel status: 0

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

Konstantinos Varvagiannis (Other)

gene: ZBTB11 was added gene: ZBTB11 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB11 were set to 29893856; 28382966 Phenotypes for gene: ZBTB11 were set to Intellectual disability Penetrance for gene: ZBTB11 were set to Complete Review for gene: ZBTB11 was set to AMBER