rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
27389779
2017
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Mutations in HECW2 are associated with intellectual disability and epilepsy.
27334371
2016
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Excess of rare, inherited truncating mutations in autism.
25961944
2015
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962
2015
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling.
25555806
2015
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
25262651
2014
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
The contribution of de novo coding mutations to autism spectrum disorder.
25363768
2014
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.
24163370
2013
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
22604720
2012
rs1553633403
×
Entrez Id:
57520
Gene Symbol:
HECW2
HECW2
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
16179223
2005