KIF4A

kinesin family member 4A
OMIM: 300521, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KIF4A in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.123

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, X-linked 100 MIM#300923

Green KIF4A in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 100 MIM#300923
  • Taurodontism, microdontia, and dens invaginatus MIM#313490

Amber KIF4A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Intellectual developmental disorder, X-linked 100 MIM#300923

    Green KIF4A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, X-linked 100 MIM#300923

    Green KIF4A in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, X-linked 100 - OMIM# 300923
    • Hydrocephalus