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  1. Genes and Genomic Entities
  2. HIKESHI:Ensemblv90

HIKESHI:Ensemblv90

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HIKESHI in Mendeliome


Version 1.3802

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 1.65

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 1.508

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

    Green HIKESHI in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.334

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • 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

    Green HIKESHI in Optic Atrophy


    Level 2: Ophthalmological disorders
    Version 2.0

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

    Green HIKESHI in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green HIKESHI in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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