1. Panels
  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. DYRK1A
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital anomalies of the kidney and urinary tract (CAKUT) 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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Review of 15 patients with pathogenic DYRK1A variants revealed 11 of whom presented with CAKUT/genital defects. Studies in Xenopus embryos supported findings (Blackburn 2019; PMID: 31263215)
Sources: Literature
Created: 21 Apr 2020, 12:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 21 Apr 2020, 12:37 a.m.

Panel version: 0.64

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>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; PMID:25707398)

Review of 15 patients with pathogenic DYRK1A variants revealed 11 of whom presented with CAKUT/genital defects. Studies in Xenopus embryos supported findings (Blackburn 2019; PMID: 31263215)
Created: 20 Apr 2020, 5:37 a.m. | Last Modified: 20 Apr 2020, 5:37 a.m.
Panel Version: 0.2422

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

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

Publications

Created: 20 Apr 2020, 5:37 a.m.
Last Modified: 20 Apr 2020, 5:37 a.m.
Panel version: Imported from Mendeliome panel version 0.2422

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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

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: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYRK1A was added gene: DYRK1A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to 25707398; 31263215 Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7 (MIM#614104) Review for gene: DYRK1A was set to GREEN