Intellectual Disability
|
0.130 |
Biomarker
|
group |
HPO |
|
|
|
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability.
|
28345786 |
2017 |
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
Patients with pathogenic variants in ZBTB18 present with Intellectual Disability (ID) with frequent co-occurrence of corpus callosum (CC) anomalies, hypotonia, microcephaly, growth problems and variable facial dysmorphologies.
|
29573576 |
2018 |
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
Here we provide additional evidence for haploinsufficiency or dysfunction of the ZBTB18 gene as the cause of ID in five unrelated patients with variable syndromic features who underwent whole exome sequencing revealing separate de novo pathogenic or likely pathogenic variants in ZBTB18 (two missense alterations and three truncating alterations).
|
27598823 |
2017 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The zinc finger-associated SCAN box is a conserved oligomerization domain.
|
10567577 |
1999 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
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 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Clinical whole exome sequencing in child neurology practice.
|
25131622 |
2014 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
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 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.
|
17447250 |
2007 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.
|
11350943 |
2001 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).
|
14681759 |
2003 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.
|
9568537 |
1997 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Identification of novel genetic causes of Rett syndrome-like phenotypes.
|
26740508 |
2016 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.
|
19409883 |
2009 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.
|
22513377 |
2012 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
|
22095278 |
2012 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Transcription factor haploinsufficiency: when half a loaf is not enough.
|
11854316 |
2002 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
|
23494996 |
2013 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
|
27598823 |
2017 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
|
22678713 |
2012 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
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 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
|
20672375 |
2010 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.
|
9756912 |
1998 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
|
21934713 |
2012 |