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Mendeliome

Gene: HIKESHI

Green List (high evidence)

HIKESHI (Hikeshi, heat shock protein nuclear import factor)
EnsemblGeneIds (GRCh38): ENSG00000149196
EnsemblGeneIds (GRCh37): ENSG00000149196
OMIM: 614908, Gene2Phenotype
HIKESHI is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six children from three unrelated Ashkenazi Jewish families reported, segregating same homozygous variant. Neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. Other features: visual impairment; cardiac failure during acute illness. Hikeshi is a Japanese Edo era compound word for firefighter, smokejumper, or troubleshooter.
Created: 5 Jan 2020, 5:31 a.m. | Last Modified: 5 Jan 2020, 5:31 a.m.
Panel Version: 0.660

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 13, MIM# 616881

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 13, MIM# 616881
OMIM
614908
Clinvar variants
Variants in HIKESHI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hikeshi has been classified as Green List (High Evidence).

5 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HIKESHI were changed from to Leukodystrophy, hypomyelinating, 13, MIM# 616881

5 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HIKESHI were set to

5 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HIKESHI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HIKESHI was added gene: HIKESHI was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HIKESHI was set to Unknown