MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of novel genetic causes of Rett syndrome-like phenotypes.
|
26740508 |
2016 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Global developmental delay
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
Global developmental delay
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Distal monosomy 1q
|
0.300 |
ChromosomalRearrangement
|
disease |
ORPHANET |
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
|
24193349 |
2014 |
Microcephaly
|
0.150 |
GeneticVariation
|
disease |
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 |
Microcephaly
|
0.150 |
Biomarker
|
disease |
BEFREE |
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44.
|
28345786 |
2017 |
Microcephaly
|
0.150 |
Biomarker
|
disease |
BEFREE |
ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance.
|
28283832 |
2017 |
Microcephaly
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Using a novel conditional RP58 allele here we show that its CNS-specific loss yields a novel postnatal phenotype: microencephaly, agenesis of the corpus callosum and cerebellar hypoplasia that resembles the chr1qter deletion microcephaly syndrome in human.
|
22095278 |
2012 |
Microcephaly
|
0.150 |
Biomarker
|
disease |
BEFREE |
Two copies of AKT3 and ZNF238, two previously proposed dosage sensitive candidate genes for microcephaly and agenesis of the corpus callosum, were retained in two of our patients.
|
20382278 |
2010 |
Microcephaly
|
0.150 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
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 |
Intellectual Disability
|
0.130 |
Biomarker
|
group |
HPO |
|
|
|
Agenesis of corpus callosum
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Incomplete penetrance or haploinsufficiency of other genes from the critical region may explain the absence of corpus callosum agenesis in this patient with a ZBTB18 point mutation.
|
24193349 |
2014 |
Agenesis of corpus callosum
|
0.120 |
Biomarker
|
disease |
BEFREE |
Two copies of AKT3 and ZNF238, two previously proposed dosage sensitive candidate genes for microcephaly and agenesis of the corpus callosum, were retained in two of our patients.
|
20382278 |
2010 |
Agenesis of corpus callosum
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Seizures
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who typically present with ID, microcephaly, corpus callosum (CC) abnormalities, and seizures.
|
27598823 |
2017 |
Seizures
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
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 |