MAPKAPK5

mitogen-activated protein kinase-activated protein kinase 5
OMIM: 606723, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MAPKAPK5 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurocardiofaciodigital syndrome, MIM# 619869

Green MAPKAPK5 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurocardiofaciodigital syndrome, MIM# 619869

Green MAPKAPK5 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.276

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurocardiofaciodigital syndrome, MIM# 619869

    Green MAPKAPK5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurocardiofaciodigital syndrome, MIM# 619869

    Green MAPKAPK5 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurocardiofaciodigital syndrome, MIM# 619869