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Intellectual disability syndromic and non-syndromic

Gene: DYRK1A

Green List (high evidence)

DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)
EnsemblGeneIds (GRCh38): ENSG00000157540
EnsemblGeneIds (GRCh37): ENSG00000157540
OMIM: 600855, Gene2Phenotype
DYRK1A is in 9 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

2 intragenic deletions and at least 10 LoF type variants reported, mostly de novo, in patients with ID, ASD, microcephaly, IUGR, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia, and a specific facial gestalt (van Bon 2016)
Created: 20 Apr 2020, 5:19 a.m. | Last Modified: 20 Apr 2020, 5:19 a.m.
Panel Version: 0.2538

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 7 (MIM#614104)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal dominant 7 (MIM#614104)
OMIM
600855
Clinvar variants
Variants in DYRK1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dyrk1a has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DYRK1A were set to

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYRK1A was added gene: DYRK1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DYRK1A was set to Unknown