HIKESHI

Hikeshi, heat shock protein nuclear import factor
OMIM: 614908, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber HIKESHI in White matter disorders and cerebral calcification - narrow panel


Version 1.241
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, OMIM:616881
    Tags
    • Q2_21_rating

    Green HIKESHI in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.295

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, OMIM:616881

    Amber HIKESHI in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.72
    Latest signed off version: v2.2 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, OMIM:616881
    Tags
    • watchlist

    Red HIKESHI in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.315
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, OMIM:616881

    Green HIKESHI in Hereditary spastic paraplegia - childhood onset


    Version 2.145
    Latest signed off version: v2.18 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 13, OMIM:616881