HIKESHI

Hikeshi, heat shock protein nuclear import factor
OMIM: 614908, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green HIKESHI in Mendeliome


Version 1.4230

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 13, MIM# 616881

Green HIKESHI in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.67

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, MIM# 616881

    Green HIKESHI in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.641

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, MIM# 616881

    Green HIKESHI in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, MIM#616881