Gene: DYNC1H1

Alternate names for this Gene: CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22

Gene Summary: Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.31

Description of this Gene: dynein cytoplasmic 1 heavy chain 1

Type of Gene: protein-coding

rs1057518083 in DYNC1H1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O PMID 26846447 2016 Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

PMID 28554554 2017 Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

PMID 25512093 2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

rs387906738 in DYNC1H1 gene and Charcot-Marie-Tooth Disease PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs1555408829 in DYNC1H1 gene and Dysmorphic features PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

PMID 19074350 2008 Structure and functional role of dynein's microtubule-binding domain.

PMID 15826937 2005 The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 25609763 2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 29243232 2018 A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

PMID 28325891 2017 Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.

PMID 9781046 1998 Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 16519653 2006 Human disorders of cortical development: from past to present.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555411378 in DYNC1H1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 25140959 2014 Somatic mutations in cerebral cortical malformations.

rs1555411378 in DYNC1H1 gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1555408829 in DYNC1H1 gene and Muscle hypotonia PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28325891 2017 Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

PMID 16519653 2006 Human disorders of cortical development: from past to present.

PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 9781046 1998 Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

PMID 19074350 2008 Structure and functional role of dynein's microtubule-binding domain.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 25609763 2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 15826937 2005 The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk.

PMID 29243232 2018 A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

rs387906738 in DYNC1H1 gene and Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 25512093 2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

PMID 26846447 2016 Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

PMID 25484024 2015 Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.