Genomics England
GMS Panels
Panels
Genes and Entities

HSPB1

heat shock protein family B (small) member 1
OMIM: 602195
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 IIB, 608634
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, axonal, type 2F, 606595, Neuropathy, distal hereditary motor, type IIB, 608634