×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
27598823
2017
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Identification of novel genetic causes of Rett syndrome-like phenotypes.
26740508
2016
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Clinical whole exome sequencing in child neurology practice.
25131622
2014
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
24614070
2014
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
24193349
2014
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
23494996
2013
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
21934713
2012
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.
22513377
2012
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
21800092
2012
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.
22234186
2012
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
22095278
2012
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
22678713
2012
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
20672375
2010
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
20382278
2010
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
20059953
2009
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.
19409883
2009
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
17668379
2007
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.
17447250
2007
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).
14681759
2003
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Transcription factor haploinsufficiency: when half a loaf is not enough.
11854316
2002
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.
11350943
2001
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
Zinc finger proteins: new insights into structural and functional diversity.
11179890
2001
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
The zinc finger-associated SCAN box is a conserved oligomerization domain.
10567577
1999
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Movement Disorders
0.100
GeneticVariation
CLINVAR
RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.
9756912
1998