Genomics England
GMS Panels
Panels
Genes and Entities

HIKESHI

Hikeshi, heat shock protein nuclear import factor
OMIM: 614908
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 13, OMIM:616881
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 13, OMIM:616881
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 13, OMIM:616881