Severe microcephaly

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 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Rebecca Foulger (Genomics England curator)

Added 'deletions' tag based on PMID:21294719.
Created: 2 Mar 2017, 10:56 a.m.
Comment on list classification: Updated rating from Red to Green: >3 cases of DYRK1A variants causing congenital microcephaly amongst the phenotypes. Additional evidence comes from translocations reported in PMID:18405873, and microcephaly studies in autism patients with DYRK1A mutations: PMID:23160955.
Created: 2 Mar 2017, 10:56 a.m.
Additional cases reported by Ji et al., 2015 (PMID:25944381) who identified 14 individuals with denovo heterozygous variants of DYRK1A; five with microdeletions, three with small insertions or deletions (INDELs) and six with deleterious SNVs. Table 1 shows that 13 patients shared congenital microcephaly at birth (amongst other features including short stature and ID). The severity of the microcephaly varied from -2 SD to -5 SD. Patients are from a range of ethnicities (Mexican, European, Armenia, Vietnamese).
Created: 2 Mar 2017, 10:54 a.m.
Added DYRK1A to panel as suggested by Arianna Tucci. 2 variant cases reported in van Bon et al. (2011, PMID:21294719 and Courcet et al. (2012, PMID:23099646).
Created: 2 Mar 2017, 10:49 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • microcephaly
  • Mental retardation, autosomal dominant 7, 614104
Tags
deletions
OMIM
600855
Clinvar variants
Variants in DYRK1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DYRK1A.

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DYRK1A were set to 21294719; 23099646; 23160955; 18405873; 25944381

2 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DYRK1A was created by rfoulger

2 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DYRK1A was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other