|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome.
|
28449295 |
2017 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome.
|
23494856 |
2013 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
|
28250421 |
2017 |
|
KBG syndrome
|
0.800 |
CausalMutation
|
disease |
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 |
|
KBG syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations.
|
23184435 |
2013 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome.
|
22307766 |
2012 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings demonstrate a novel role for ANKRD11 in neuron differentiation during brain development and suggest an epigenetic modification as a potential key molecular feature underlying KBG syndrome.
|
29274743 |
2018 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
|
25413698 |
2015 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
This single-nucleotide duplication is predicted to lead to a premature stop codon and loss of function in <i>ANKRD11,</i> thereby implicating it as contributing to the proband's symptoms and yielding a molecular diagnosis of KBG syndrome.
|
27900361 |
2016 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Herein, we discuss a Korean family with KBG syndrome, as identified by ANKRD11 gene mutation.
|
25464108 |
2015 |
|
KBG syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
|
28250421 |
2017 |
|
KBG syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We propose updated diagnostic criteria/clinical recommendations for KBG syndrome and suggest that inclusion of ANKRD11 will increase the utility of gene panels designed to investigate developmental delay.© 2016 The Authors.
|
27667800 |
2016 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
|
25413698 |
2015 |
|
KBG syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Although ANKRD11 appears to be a major gene associated with intellectual disability, KBG syndrome remains under-diagnosed.
|
27605097 |
2016 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.
|
25556659 |
2015 |
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies.
|
31566922 |
2019 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
KBG syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss.
|
29224748 |
2017 |
|
KBG syndrome
|
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 |
|
KBG syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This single-nucleotide duplication is predicted to lead to a premature stop codon and loss of function in <i>ANKRD11,</i> thereby implicating it as contributing to the proband's symptoms and yielding a molecular diagnosis of KBG syndrome.
|
27900361 |
2016 |
|
KBG syndrome
|
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 |