rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
0.810
GeneticVariation
BEFREE
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
20410308
2010
rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
0.810
GeneticVariation
UNIPROT
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
23512658
2013
rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
0.810
GeneticVariation
UNIPROT
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
14634649
2003
rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
0.810
GeneticVariation
UNIPROT
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
20410308
2010
rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
0.810
GeneticVariation
UNIPROT
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
16740914
2006
rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
0.810
GeneticVariation
UNIPROT
PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.
26046437
2015
rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
0.810
GeneticVariation
UNIPROT
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
21315190
2011
rs1047322213
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Intellectual Disability
0.010
GeneticVariation
BEFREE
Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia.
30244542
2018
rs1047322213
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Partial agenesis of corpus callosum
0.010
GeneticVariation
BEFREE
Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum , mild vermis, and brainstem hypoplasia.
30244542
2018
rs121917899
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Intellectual Disability
0.010
GeneticVariation
BEFREE
The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities , including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C ) correlates with the development of the disease.
27456546
2016
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Poor school performance
C
0.700
GeneticVariation
CLINVAR
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
14634649
2003
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
16740914
2006
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Renpenning syndrome comes into focus.
15782410
2005
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
C
0.700
CausalMutation
CLINVAR
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
14634649
2003
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Hyperactive behavior
C
0.700
CausalMutation
CLINVAR
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
C
0.700
CausalMutation
CLINVAR
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
15024694
2004
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
C
0.700
CausalMutation
CLINVAR
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
17033686
2007
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
20950397
2011
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
C
0.700
CausalMutation
CLINVAR
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
7943045
1994
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Delayed speech and language development
C
0.700
CausalMutation
CLINVAR
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Microcephaly (physical finding)
C
0.700
CausalMutation
CLINVAR
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Familial sex-linked mental retardation.
13981686
1962
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
15355434
2004
rs606231193
×
Entrez Id:
10084
Gene Symbol:
PQBP1
PQBP1
Renpenning syndrome 1
CAG
0.700
CausalMutation
CLINVAR