×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
GeneticVariation
disease
BEFREE
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
28250421
2017
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
GENOMICS_ENGLAND
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
28250421
2017
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
BEFREE
ANKRD11 thus serves as a candidate tumor suppressor gene and it has been speculated that its haploinsufficiency may lead to an increased cancer risk in KBG syndrome patients.
29696793
2018
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
CausalMutation
disease
CLINVAR
Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed.
27605097
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
BEFREE
Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed.
27605097
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
CLINGEN
Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed.
27605097
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
CLINGEN
An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda.
17986521
2008
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
CLINGEN
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.
25556659
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
CausalMutation
disease
CLINVAR
Clinical and genetic aspects of KBG syndrome.
27667800
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
GeneticVariation
disease
BEFREE
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
24838796
2014
×
Entrez Id:
23028
Gene Symbol:
KDM1A
KDM1A
0.010
GeneticVariation
disease
BEFREE
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
24838796
2014
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
CausalMutation
disease
CLINVAR
De novo genic mutations among a Chinese autism spectrum disorder cohort.
27824329
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
CLINGEN
Electroencephalographic findings in KBG syndrome : a child with novel mutation in ANKRD11 gene.
25543316
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
BEFREE
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
25424714
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
GeneticVariation
disease
BEFREE
Here, we present a patient with clinically confirmed KBG syndrome carrying a de novo 690-kb deletion at 16q24.3 involving part of ANKRD11 .
23463723
2013
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
CLINGEN
Herein, we discuss a Korean family with KBG syndrome , as identified by ANKRD11 gene mutation.
25464108
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
CLINGEN
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome .
28449295
2017
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
GeneticVariation
disease
BEFREE
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome .
28449295
2017
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
Biomarker
disease
BEFREE
In addition, microdeletion of 16q24.3, including ANKRD11 , has been reported to result in the KBG syndrome phenotype.
25464108
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
GeneticVariation
disease
BEFREE
It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome .
22307766
2012
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
CausalMutation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
0.800
GeneticVariation
disease
BEFREE
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
30642272
2019