|
Neurodevelopmental Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
|
28191889 |
2017 |
|
Neurodevelopmental Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
|
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability.
|
26647312 |
2016 |
|
Intellectual Disability
|
0.130 |
Biomarker
|
group |
HPO |
|
|
|
|
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
Therefore we emphasize that BRPS syndrome, caused by ASXL3 loss-of-function variants, is a clinically distinct intellectual disability syndrome with a recognizable phenotype distinguishable from that of Bohring-Opitz syndrome.
|
27901041 |
2017 |
|
Intellectual Disability
|
0.130 |
Biomarker
|
group |
BEFREE |
Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities.
|
27693232 |
2016 |
|
Sleep Disorders
|
0.110 |
GeneticVariation
|
group |
BEFREE |
We describe a patient with severe developmental delay, feeding problems, short stature, autism, and sleep disturbance with a heterozygous de novo splicing mutation in the ASXL3 gene.
|
27075689 |
2016 |
|
Sleep Disorders
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
|
27901041 |
2017 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
|
26647312 |
2016 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
|
28955728 |
2017 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
|
28100473 |
2017 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
|
24044690 |
2013 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
|
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Synaptic, transcriptional and chromatin genes disrupted in autism.
|
25363760 |
2014 |
|
Malignant Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
<i>ASXL3</i> silencing inhibited proliferation, clonogenicity, and teratoma formation by Lu-iPSCs, and diminished clonogenicity and malignant growth of SCLC cells <i>in vivo</i> Collectively, our studies validate the utility of the Lu-iPSC model for elucidating epigenetic mechanisms contributing to pulmonary carcinogenesis and highlight ASXL3 as a novel candidate target for SCLC therapy.<i>Cancer Res; 77(22); 6267-81.©2017 AACR</i>.
|
28935813 |
2017 |
|
Malignant Neoplasms
|
0.030 |
GeneticVariation
|
group |
BEFREE |
All three ASXL family members (ASXL1, ASXL2, and ASXL3) are affected by somatic or de novo germline mutations in cancer or rare developmental syndromes, respectively.
|
27527698 |
2016 |
|
Malignant Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
ASXL3 was a predicted cancer-associated gene, just like ASXL1 and ASXL2.
|
15138607 |
2004 |
|
Primary malignant neoplasm
|
0.030 |
GeneticVariation
|
group |
BEFREE |
All three ASXL family members (ASXL1, ASXL2, and ASXL3) are affected by somatic or de novo germline mutations in cancer or rare developmental syndromes, respectively.
|
27527698 |
2016 |
|
Primary malignant neoplasm
|
0.030 |
Biomarker
|
group |
BEFREE |
<i>ASXL3</i> silencing inhibited proliferation, clonogenicity, and teratoma formation by Lu-iPSCs, and diminished clonogenicity and malignant growth of SCLC cells <i>in vivo</i> Collectively, our studies validate the utility of the Lu-iPSC model for elucidating epigenetic mechanisms contributing to pulmonary carcinogenesis and highlight ASXL3 as a novel candidate target for SCLC therapy.<i>Cancer Res; 77(22); 6267-81.©2017 AACR</i>.
|
28935813 |
2017 |
|
Primary malignant neoplasm
|
0.030 |
Biomarker
|
group |
BEFREE |
ASXL3 was a predicted cancer-associated gene, just like ASXL1 and ASXL2.
|
15138607 |
2004 |
|
Parathyroid Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
The most important finding is the recurrently mutated gene, ASXL3, which has never been reported in parathyroid tumors before.
|
29982334 |
2018 |
|
Craniofacial Abnormalities
|
0.010 |
GeneticVariation
|
group |
BEFREE |
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
|
24044690 |
2013 |