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  3. DYRK1A
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Structural eye disease

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 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.
Panel Version: 1.113
Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.
Created: 20 Jan 2021, 10:53 a.m. | Last Modified: 20 Jan 2021, 10:53 a.m.
Panel Version: 1.42
Created: 20 Jan 2021, 10:53 a.m.
Last Modified: 20 Jan 2021, 10:53 a.m.
Panel version: 1.113

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Evers et al. 2017 described 3 individuals with coloboma/microphthalmia and de novo variants in DYRK1A among 20 individuals from the DDD study with DYRK1A haploinsufficiency syndrome. Laguna et al found that DYRK1A +/- mice have smaller eyes than their wildtype littermates.
Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Evers et al. 2017 described 3 individuals with coloboma/microphthalmia and de novo variants in DYRK1A among 20 individuals from the DDD study with DYRK1A haploinsufficiency syndrome. Laguna et al found that DYRK1A +/- mice have smaller eyes than their wildtype littermates.
Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 20 Jan 2021, 10:29 a.m.
Last Modified: 20 Jan 2021, 10:29 a.m.
Panel version: 1.101

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 7, OMIM:614104
OMIM
600855
Clinvar variants
Variants in DYRK1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: DYRK1A. Tag Q1_22_NHS_review was removed from gene: DYRK1A.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to DYRK1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Mar 2022, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q1_22_NHS_review tag was added to gene: DYRK1A.

16 Mar 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DYRK1A were set to 19081073; 28135719

20 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dyrk1a has been classified as Amber List (Moderate Evidence).

20 Jan 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: DYRK1A.

20 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: DYRK1A was added gene: DYRK1A was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYRK1A were set to 19081073; 28135719 Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7, OMIM:614104