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  2. Optic Atrophy
  3. HIKESHI
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Optic Atrophy

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)

Over 10 individuals reported with recurrent homozygous c.160G>C;p.(Val54Leu) variant, high carrier frequency in the Ashkenazi Jewish population. Optic atrophy reported in several.
Sources: Expert list
Created: 2 Sep 2023, 8:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 13, MIM# 616881

Publications

Created: 2 Sep 2023, 8:14 a.m.

Panel version: 1.21

Details

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

History Filter Activity

2 Sep 2023, 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).

2 Sep 2023, 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).

2 Sep 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HIKESHI was added gene: HIKESHI was added to Optic Atrophy. Sources: Expert list Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIKESHI were set to 34111619; 26545878 Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM# 616881 Review for gene: HIKESHI was set to GREEN