NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
|
27389779 |
2017 |
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
|
27389779 |
2017 |
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in HECW2 are associated with intellectual disability and epilepsy.
|
27334371 |
2016 |
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
Recently, HECW2 mutations were detected in patients with ID and growth development disorders.
|
29395664 |
2018 |
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental delay and identified four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia.
|
27389779 |
2017 |
Intellectual Disability
|
0.130 |
Biomarker
|
group |
BEFREE |
In combination with previously published exome sequencing results in neurodevelopmental disorders, our analysis implicates HECW2 as a novel candidate gene in ID and epilepsy.
|
27334371 |
2016 |
Intellectual Disability
|
0.130 |
Biomarker
|
group |
HPO |
|
|
|
Global developmental delay
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental delay and identified four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia.
|
27389779 |
2017 |
Global developmental delay
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
|
27389779 |
2017 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
|
27389779 |
2017 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in HECW2 are associated with intellectual disability and epilepsy.
|
27334371 |
2016 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in HECW2 are associated with intellectual disability and epilepsy.
|
27334371 |
2016 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.
|
25555806 |
2015 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Excess of rare, inherited truncating mutations in autism.
|
25961944 |
2015 |
Schizophrenia
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of schizophrenia in Ashkenazi Jews.
|
26198764 |
2015 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Excess of rare, inherited truncating mutations in autism.
|
25961944 |
2015 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.
|
25555806 |
2015 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
|
25262651 |
2014 |
Muscle hypotonia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
The contribution of de novo coding mutations to autism spectrum disorder.
|
25363768 |
2014 |