DNAJB6

DnaJ heat shock protein family (Hsp40) member B6
OMIM: 611332
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
limb-girdle muscular dystrophy type 1E, 603511
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Limb-Girdle Muscular Dystrophy, Dominant, Muscular dystrophy, limb-girdle, type 1E, 603511