×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
KBG syndrome
0.800
CausalMutation
CLINVAR
Our results demonstrate that mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function.
21782149
2011
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
KBG syndrome
0.800
CausalMutation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
KBG syndrome
0.800
GeneticVariation
CLINVAR
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
KBG syndrome
0.800
CausalMutation
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
KBG syndrome
0.800
CausalMutation
CLINVAR
De novo genic mutations among a Chinese autism spectrum disorder cohort.
27824329
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
KBG syndrome
0.800
CausalMutation
CLINVAR
Clinical and genetic aspects of KBG syndrome.
27667800
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Autistic Disorder
0.130
CausalMutation
CLINVAR
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Global developmental delay
0.130
GeneticVariation
CLINVAR
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Global developmental delay
0.130
CausalMutation
CLINVAR
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
23494856
2013
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.
15184363
2004
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
KBG syndrome in a cohort of Italian patients.
15523620
2004
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
25125236
2014
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
17526801
2007
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
28422132
2017
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Clinical and genetic aspects of KBG syndrome.
27667800
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
21782149
2011
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.
17230487
2007
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
17508425
2007
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
23184435
2013
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.
23885231
2013
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
KBG syndrome.
17163996
2006
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
25652421
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
27435318
2016