|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
|
28193117 |
2017 |
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
BEFREE |
Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation.
|
28554554 |
2017 |
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.
|
26846447 |
2016 |
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
|
25484024 |
2015 |
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
|
25512093 |
2015 |
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
|
22847149 |
2012 |
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
|
22459677 |
2012 |
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
|
|
0.810 |
GeneticVariation
|
CLINVAR |
|
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
|
25512093 |
2015 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
|
25512093 |
2015 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
|
24307404 |
2014 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
|
21820100 |
2011 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hereditary Motor and Sensory Neuropathies
|
|
0.710 |
GeneticVariation
|
BEFREE |
Combining linkage analysis and whole-exome sequencing, we identified a novel dominant defect in the DYNC1H1 tail domain (c.1792C>T, p.Arg598Cys) causing axonal HMSN.
|
25512093 |
2015 |
|
Hereditary Motor and Sensory Neuropathies
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
|
29243232 |
2018 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
|
28193117 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
|
28263302 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
|
28325891 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
|
26395554 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
|
25609763 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
|
24307404 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
|
23603762 |
2013 |