|
Failure to Thrive
|
0.110 |
Biomarker
|
disease |
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 |
|
Failure to Thrive
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Severe intellectual disability
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Severe intellectual disability
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features.
|
27693232 |
2016 |
|
Synophrys
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Synophrys
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe six unrelated patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3 and concordant clinical features: severe muscular hypotonia with feeding difficulties in infancy, significant motor delay, profound speech impairment, intellectual disability and a characteristic craniofacial phenotype (long face, arched eyebrows with mild synophrys, downslanting palpebral fissures, prominent columella, small alae nasi, high, narrow palate and relatively little facial expression).
|
27901041 |
2017 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
|
28955728 |
2017 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
|
24044690 |
2013 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
|
28955728 |
2017 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
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 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
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 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Synaptic, transcriptional and chromatin genes disrupted in autism.
|
25363760 |
2014 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
|
26647312 |
2016 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
|
27901041 |
2017 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Synaptic, transcriptional and chromatin genes disrupted in autism.
|
25363760 |
2014 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
|
26647312 |
2016 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
|
24044690 |
2013 |
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features.
|
27693232 |
2016 |
|
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
|
27901041 |
2017 |