Genomics England
GMS Panels
Panels
Genes and Entities

HSPB8

heat shock protein family B (small) member 8
OMIM: 608014
PanelMode of inheritanceDetails
2 panels
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, distal hereditary motor type IIA, 158590, distal myopathy
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type IIA, 158590, Charcot Marie Tooth disease, axonal, type 2L, 608673