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 Hereditary spastic paraplegia, childhood onset
R-numbers: R61
Signed-off version 9.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 13, OMIM:616881
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 6.46
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 13, OMIM:616881
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 13, OMIM:616881