HSPB1

heat shock protein family B (small) member 1
OMIM: 602195
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, distal hereditary motor type IIB, 608634
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, axonal, type 2F, 606595, Neuropathy, distal hereditary motor, type IIB, 608634