rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
27598823
2017
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
27598823
2017
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Identification of novel genetic causes of Rett syndrome-like phenotypes.
26740508
2016
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Identification of novel genetic causes of Rett syndrome-like phenotypes.
26740508
2016
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
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
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
24614070
2014
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Clinical whole exome sequencing in child neurology practice.
25131622
2014
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Clinical whole exome sequencing in child neurology practice.
25131622
2014
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
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
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
24614070
2014
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
23494996
2013
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
23494996
2013
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
22678713
2012
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
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
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
22095278
2012
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
T
0.700
GeneticVariation
CLINVAR
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
21934713
2012
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
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
rs1553270522
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
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
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
21934713
2012
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.
22234186
2012
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
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
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
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
rs797044885
×
Entrez Id:
10472
Gene Symbol:
ZBTB18
ZBTB18
Muscle hypotonia
G
0.700
GeneticVariation
CLINVAR
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
22095278
2012