DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A
OMIM: 600855, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber DYRK1A in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 7, 614104

Green DYRK1A in Autism


Version 0.15

review Not set
Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • DD/NDD, EP, EPS, ID, ASD

Green DYRK1A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • microcephaly
  • Mental retardation, autosomal dominant 7, 614104
Tags
  • deletions

Green DYRK1A in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7

Green DYRK1A in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104

    Green DYRK1A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.89
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7

    Green DYRK1A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.82
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mental retardation, autosomal dominant 7, 614104
    • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7

    Green DYRK1A in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal dominant 7, 614104