Leukodystrophy - paediatric
Gene: HIKESHI
HIKESHI (Hikeshi, heat shock protein nuclear import factor)
EnsemblGeneIds (GRCh38): ENSG00000149196
EnsemblGeneIds (GRCh37): ENSG00000149196
OMIM: 614908, Gene2Phenotype
HIKESHI is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000149196
EnsemblGeneIds (GRCh37): ENSG00000149196
OMIM: 614908, Gene2Phenotype
HIKESHI is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert listCreated: 5 Jan 2020, 5:29 a.m.
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
- Expert list
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 13, MIM#616881
- OMIM
- 614908
- Clinvar variants
- Variants in HIKESHI
- Penetrance
- None
- Panels with this gene
History Filter Activity
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HIKESHI was added gene: HIKESHI was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM#616881