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  3. DYRK1A
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Intellectual_disability

Gene: DYRK1A

Red List (low evidence)
DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)
EnsemblGeneIds (GRCh38): ENSG00000157540
EnsemblGeneIds (GRCh37): ENSG00000157540
OMIM: 600855, Gene2Phenotype
DYRK1A is in 8 panels

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Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 7, 614104
  • Intellectual disability
OMIM
600855
Clinvar variants
Variants in DYRK1A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYRK1A was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYRK1A was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen