Fetal anomalies
Gene: DYRK1A

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IUGR is a feature. More than 10 unrelated individuals reported.
Created: 6 Dec 2021, 10:13 a.m. | Last Modified: 6 Dec 2021, 10:13 a.m.

Panel Version: 0.1088

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 7, MIM# 614104

Publications

25707398

Created: 6 Dec 2021, 10:13 a.m.
Last Modified: 6 Dec 2021, 10:13 a.m.
Panel version: 0.1088

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Really only one patient where cataract has been attributed directly to DYRK1A variant, 13 others with DYRK1A variants did not have cataracts (28053047). Second mention of cataract the gene was part of a large multi-gene deletion, and again other patients with DYRK1A (28053047) variants did not have cataract. Insufficient evidence.
Sources: Literature
Created: 7 Jul 2020, 7:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital cataracts

Publications

Created: 7 Jul 2020, 7:58 a.m.

Panel version: Imported from Cataract panel version 0.172

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

25707398

Created: 20 Apr 2020, 5:19 a.m.
Last Modified: 20 Apr 2020, 5:19 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2538

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Literature

Phenotypes

Mental retardation, autosomal dominant 7, MIM# 614104

Tags

SV/CNV

OMIM

600855

Clinvar variants

Variants in DYRK1A

Penetrance

None

Publications

25707398

Panels with this gene