Gene: ZBTB18 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823

2017
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823

2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508

2016
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508

2016
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. 24193349

2014
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Clinical whole exome sequencing in child neurology practice. 25131622

2014
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Clinical whole exome sequencing in child neurology practice. 25131622

2014
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. 24193349

2014
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. 23494996

2013
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. 23494996

2013
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. 21934713

2012
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. 22513377

2012
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 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
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex. 22234186

2012
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. 22678713

2012
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. 22095278

2012
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 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
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. 22095278

2012
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. 21934713

2012
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. 22513377

2012
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. 22678713

2012