BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome.
|
31638014 |
2019 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
|
25294932 |
2014 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
De novo loss of function (LOF) mutations in the ASXL3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and developmental delay, but there is evidence that they also occur in healthy individuals.
|
26506440 |
2015 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We identified three novel de novo heterozygous truncating variants distributed across ASXL3, outside the original cluster of ASXL3 mutations previously described for BRS.
|
26647312 |
2016 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
Our findings suggest that the expression of the truncated ASXL3 protein, including ASXN and ASXH domains, give rise to BRPS, which is distinct from but overlaps with BOS.
|
27075689 |
2016 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
De novo sequence variants, including truncating and splicing variants, in the additional sex‑combs like 3 gene (ASXL3) have been described as the cause of Bainbridge‑Ropers syndrome (BRS).
|
31180560 |
2019 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
|
23383720 |
2013 |
BAINBRIDGE-ROPERS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation.
|
29367179 |
2018 |
Epilepsy
|
0.300 |
Biomarker
|
disease |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
T-Cell Lymphoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma.
|
26192917 |
2015 |
Epilepsy, Cryptogenic
|
0.300 |
Biomarker
|
disease |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
Awakening Epilepsy
|
0.300 |
Biomarker
|
disease |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
Global developmental delay
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
De novo loss of function (LOF) mutations in the ASXL3 gene cause Bainbridge-Ropers syndrome, a severe form of intellectual disability (ID) and developmental delay, but there is evidence that they also occur in healthy individuals.
|
26506440 |
2015 |
Global developmental delay
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
|
31180560 |
2019 |
Global developmental delay
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we expand the knowledge about disease causing mutations and the genotype-phenotype relationships in ASXL3 and provide evidence that rare, nonsynonymous, damaging mutations are not associated with developmental delay or microcephaly.
|
24044690 |
2013 |
Global developmental delay
|
0.130 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Global developmental delay
|
0.130 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
|
31180560 |
2019 |
Microcephaly
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we expand the knowledge about disease causing mutations and the genotype-phenotype relationships in ASXL3 and provide evidence that rare, nonsynonymous, damaging mutations are not associated with developmental delay or microcephaly.
|
24044690 |
2013 |
Microcephaly
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|