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  3. DYNC1H1
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Intellectual_disability

Gene: DYNC1H1

Green List (high evidence)
DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Known gene (Grozeva et al, 2015)
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Dominant
  • Charcot-Marie-Tooth disease, axonal, type 20, 614228Mental retardation, autosomal dominant 13, 614563Spinal muscular atrophy, lower extremity-predominant, AD, 158600
  • Intellectual disability
OMIM
600112
Clinvar variants
Variants in DYNC1H1
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC1H1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC1H1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC1H1 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC1H1 was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen