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Microcephaly
Gene: DYRK1A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated individuals reported. Key phenotypic features include intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties.
Created: 9 Mar 2021, 10:09 a.m. | Last Modified: 9 Mar 2021, 10:09 a.m.

Panel Version: 0.534

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 7, MIM# 614104; MONDO:0013578

Publications

Created: 9 Mar 2021, 10:09 a.m.
Last Modified: 9 Mar 2021, 10:09 a.m.
Panel version: 0.537

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, autosomal dominant 7, MIM# 614104
MONDO:0013578

Tags

SV/CNV

OMIM

Clinvar variants

Variants in DYRK1A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646; 33159716

9 Mar 2021, 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).

9 Mar 2021, 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; MONDO:0013578

9 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DYRK1A were set to

9 Mar 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: DYRK1A.

9 Mar 2021, 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

17 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 Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DYRK1A was set to Unknown